4-167713284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713284
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713284
    reference: chr 4
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.718+37G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.718+37G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.358+37G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.709+37G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.424+37G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.355+37G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*598+37G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.709+37G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37404G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.718+37G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.709+37G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*354+37G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*225+37G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37404G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.709+37G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*332+37G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.565+37G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.430+37G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.640+37G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*468+37G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.718+37G>A
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

4-167713286-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713286
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713286
    reference: chr 4
allele count: 5
allele frequency: 4.139895343445718e-5
allele num: 120776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.718+35C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.424+35C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.565+35C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*225+35C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.424+35C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.640+35C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.430+35C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.718+35C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.709+35C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.355+35C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*468+35C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*354+35C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.709+35C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*332+35C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*598+35C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.718+35C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37406C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.358+35C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.709+35C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.718+35C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37406C>A
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum

4-167713298-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713298
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713298
    reference: chr 4
allele count: 12
allele frequency: 9.923260121725324e-5
allele num: 120928
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37418T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.718+23T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.709+23T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.424+23T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.640+23T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.355+23T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.709+23T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*225+23T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.718+23T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.424+23T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*468+23T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.565+23T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*354+23T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*598+23T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.718+23T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.430+23T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.709+23T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.358+23T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.709+23T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*332+23T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37418T>C
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

4-167713306-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713306
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713306
    reference: chr 4
allele count: 1
allele frequency: 8.265009256810368e-6
allele num: 120992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.718+15T>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.424+15T>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*225+15T>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*354+15T>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.718+15T>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37426T>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.709+15T>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*598+15T>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.718+15T>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*332+15T>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.709+15T>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37426T>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.358+15T>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.709+15T>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.718+15T>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*468+15T>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.430+15T>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.424+15T>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.565+15T>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.640+15T>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.709+15T>A
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

4-167713311-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713311
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713311
    reference: chr 4
allele count: 1
allele frequency: 8.261868173631421e-6
allele num: 121038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.424+10C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.718+10C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.718+10C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.709+10C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37431C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.355+10C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.709+10C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*598+10C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.718+10C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*332+10C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*354+10C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*468+10C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*225+10C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.640+10C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.718+10C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37431C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.358+10C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.424+10C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.709+10C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.709+10C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.565+10C>T
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

4-167713314-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713314
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713314
    reference: chr 4
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*598+7T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*332+7T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.718+7T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.430+7T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*225+7T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.718+7T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*354+7T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.709+7T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.709+7T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.355+7T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.718+7T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.565+7T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.640+7T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*468+7T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.709+7T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.424+7T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.718+7T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37434T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.709+7T>C
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.718+7T>C
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-167713331-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713331
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713331
    reference: chr 4
allele count: 1673
allele frequency: 1.380317481271245e-2
allele num: 121204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.699T>C
  hgvsp: ENST00000512648.1:c.699T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.630T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.708T>C
  hgvsp: ENST00000506886.1:c.708T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.708T>C
  hgvsp: ENST00000357154.3:c.708T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.420T>C
  hgvsp: ENST00000534949.1:c.420T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.699T>C
  hgvsp: ENST00000504953.1:c.699T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.555T>C
  hgvsp: ENST00000421836.2:c.555T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.414T>C
  hgvsp: ENST00000541637.1:c.414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.414T>C
  hgvsp: ENST00000512681.1:c.414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*344T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.699T>C
  hgvsp: ENST00000511269.1:c.699T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.708T>C
  hgvsp: ENST00000502330.1:c.708T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*588T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37451T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.348T>C
  hgvsp: ENST00000541354.1:c.348T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.345T>C
  hgvsp: ENST00000510403.1:c.345T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37451T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.708T>C
  hgvsp: ENST00000511531.1:c.708T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*458T>C
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro236Pro
num of homozygotes: 48
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

4-167713334-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713334
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713334
    reference: chr 4
allele count: 40
allele frequency: 3.300438958381465e-4
allele num: 121196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.696G>A
  hgvsp: ENST00000511269.1:c.696G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.705G>A
  hgvsp: ENST00000357154.3:c.705G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*585G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.342G>A
  hgvsp: ENST00000510403.1:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.696G>A
  hgvsp: ENST00000512648.1:c.696G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37454G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37454G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.417G>A
  hgvsp: ENST00000534949.1:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*319G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.627G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.411G>A
  hgvsp: ENST00000512681.1:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.696G>A
  hgvsp: ENST00000357545.4:c.696G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.705G>A
  hgvsp: ENST00000511531.1:c.705G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*341G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.705G>A
  hgvsp: ENST00000502330.1:c.705G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.345G>A
  hgvsp: ENST00000541354.1:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.705G>A
  hgvsp: ENST00000506886.1:c.705G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.552G>A
  hgvsp: ENST00000421836.2:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*212G>A
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg235Arg
num of homozygotes: 1
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

4-167713343-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713343
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713343
    reference: chr 4
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.687A>G
  hgvsp: ENST00000512648.1:c.687A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.696A>G
  hgvsp: ENST00000502330.1:c.696A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.336A>G
  hgvsp: ENST00000541354.1:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*332A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*576A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.618A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.402A>G
  hgvsp: ENST00000541637.1:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.696A>G
  hgvsp: ENST00000506886.1:c.696A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.687A>G
  hgvsp: ENST00000504953.1:c.687A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*310A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.333A>G
  hgvsp: ENST00000510403.1:c.333A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.687A>G
  hgvsp: ENST00000511269.1:c.687A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.696A>G
  hgvsp: ENST00000357154.3:c.696A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.687A>G
  hgvsp: ENST00000357545.4:c.687A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*446A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.408A>G
  hgvsp: ENST00000534949.1:c.408A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.402A>G
  hgvsp: ENST00000512681.1:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.543A>G
  hgvsp: ENST00000421836.2:c.543A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37463A>G
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr232Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

4-167713344-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713344
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713344
    reference: chr 4
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.695C>T
  hgvsp: ENSP00000349677.3:p.Thr232Ile
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.332C>T
  hgvsp: ENSP00000423176.1:p.Thr111Ile
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.695C>T
  hgvsp: ENSP00000423606.1:p.Thr232Ile
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37464C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.695C>T
  hgvsp: ENSP00000420920.1:p.Thr232Ile
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.401C>T
  hgvsp: ENSP00000426318.1:p.Thr134Ile
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.686C>T
  hgvsp: ENSP00000350153.4:p.Thr229Ile
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.401C>T
  hgvsp: ENSP00000445430.1:p.Thr134Ile
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.686C>T
  hgvsp: ENSP00000425570.1:p.Thr229Ile
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.686C>T
  hgvsp: ENSP00000426177.1:p.Thr229Ile
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*331C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*309C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.686C>T
  hgvsp: ENSP00000425502.1:p.Thr229Ile
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.542C>T
  hgvsp: ENSP00000411344.2:p.Thr181Ile
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.695C>T
  hgvsp: ENSP00000423421.1:p.Thr232Ile
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.335C>T
  hgvsp: ENSP00000444789.1:p.Thr112Ile
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.617C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*202C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.407C>T
  hgvsp: ENSP00000438142.1:p.Thr136Ile
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr232Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

4-167713352-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713352
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713352
    reference: chr 4
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.678G>C
  hgvsp: ENSP00000425502.1:p.Lys226Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.327G>C
  hgvsp: ENSP00000444789.1:p.Lys109Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.678G>C
  hgvsp: ENSP00000426177.1:p.Lys226Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.678G>C
  hgvsp: ENSP00000425570.1:p.Lys226Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.609G>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37472G>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.687G>C
  hgvsp: ENSP00000349677.3:p.Lys229Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.687G>C
  hgvsp: ENSP00000420920.1:p.Lys229Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.687G>C
  hgvsp: ENSP00000423606.1:p.Lys229Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.393G>C
  hgvsp: ENSP00000445430.1:p.Lys131Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*301G>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*194G>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*437G>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*567G>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*323G>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37472G>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.393G>C
  hgvsp: ENSP00000426318.1:p.Lys131Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.534G>C
  hgvsp: ENSP00000411344.2:p.Lys178Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.324G>C
  hgvsp: ENSP00000423176.1:p.Lys108Asn
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys229Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

4-167713356-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713356
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713356
    reference: chr 4
allele count: 2
allele frequency: 1.649729444371123e-5
allele num: 121232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.530A>G
  hgvsp: ENSP00000411344.2:p.Lys177Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*433A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.605A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.395A>G
  hgvsp: ENSP00000438142.1:p.Lys132Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.323A>G
  hgvsp: ENSP00000444789.1:p.Lys108Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*190A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.683A>G
  hgvsp: ENSP00000423606.1:p.Lys228Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*297A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.320A>G
  hgvsp: ENSP00000423176.1:p.Lys107Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.389A>G
  hgvsp: ENSP00000445430.1:p.Lys130Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.683A>G
  hgvsp: ENSP00000423421.1:p.Lys228Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.674A>G
  hgvsp: ENSP00000426177.1:p.Lys225Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*563A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.389A>G
  hgvsp: ENSP00000426318.1:p.Lys130Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.674A>G
  hgvsp: ENSP00000350153.4:p.Lys225Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.674A>G
  hgvsp: ENSP00000425502.1:p.Lys225Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.674A>G
  hgvsp: ENSP00000425570.1:p.Lys225Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37476A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37476A>G
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys228Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

4-167713362-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713362
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713362
    reference: chr 4
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.677A>G
  hgvsp: ENSP00000423421.1:p.Gln226Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.524A>G
  hgvsp: ENSP00000411344.2:p.Gln175Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.599A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.389A>G
  hgvsp: ENSP00000438142.1:p.Gln130Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.668A>G
  hgvsp: ENSP00000425502.1:p.Gln223Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.317A>G
  hgvsp: ENSP00000444789.1:p.Gln106Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.668A>G
  hgvsp: ENSP00000426177.1:p.Gln223Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*427A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.383A>G
  hgvsp: ENSP00000426318.1:p.Gln128Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.668A>G
  hgvsp: ENSP00000350153.4:p.Gln223Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.677A>G
  hgvsp: ENSP00000423606.1:p.Gln226Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*557A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.677A>G
  hgvsp: ENSP00000420920.1:p.Gln226Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.677A>G
  hgvsp: ENSP00000349677.3:p.Gln226Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.383A>G
  hgvsp: ENSP00000445430.1:p.Gln128Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*313A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37482A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.314A>G
  hgvsp: ENSP00000423176.1:p.Gln105Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*184A>G
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln226Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

4-167713362-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713362
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713362
    reference: chr 4
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.389A>C
  hgvsp: ENSP00000438142.1:p.Gln130Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*313A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.317A>C
  hgvsp: ENSP00000444789.1:p.Gln106Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.677A>C
  hgvsp: ENSP00000423421.1:p.Gln226Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*291A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.599A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.677A>C
  hgvsp: ENSP00000423606.1:p.Gln226Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.383A>C
  hgvsp: ENSP00000445430.1:p.Gln128Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.668A>C
  hgvsp: ENSP00000425570.1:p.Gln223Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.524A>C
  hgvsp: ENSP00000411344.2:p.Gln175Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.383A>C
  hgvsp: ENSP00000426318.1:p.Gln128Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.314A>C
  hgvsp: ENSP00000423176.1:p.Gln105Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.668A>C
  hgvsp: ENSP00000350153.4:p.Gln223Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.677A>C
  hgvsp: ENSP00000420920.1:p.Gln226Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37482A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.668A>C
  hgvsp: ENSP00000426177.1:p.Gln223Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.677A>C
  hgvsp: ENSP00000349677.3:p.Gln226Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.668A>C
  hgvsp: ENSP00000425502.1:p.Gln223Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*427A>C
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln226Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

4-167713363-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713363
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713363
    reference: chr 4
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.523C>G
  hgvsp: ENSP00000411344.2:p.Gln175Glu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.676C>G
  hgvsp: ENSP00000423421.1:p.Gln226Glu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.667C>G
  hgvsp: ENSP00000425570.1:p.Gln223Glu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.676C>G
  hgvsp: ENSP00000423606.1:p.Gln226Glu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*183C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*290C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*426C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.388C>G
  hgvsp: ENSP00000438142.1:p.Gln130Glu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.667C>G
  hgvsp: ENSP00000350153.4:p.Gln223Glu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*312C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.667C>G
  hgvsp: ENSP00000426177.1:p.Gln223Glu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.667C>G
  hgvsp: ENSP00000425502.1:p.Gln223Glu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.382C>G
  hgvsp: ENSP00000426318.1:p.Gln128Glu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37483C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.382C>G
  hgvsp: ENSP00000445430.1:p.Gln128Glu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37483C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.316C>G
  hgvsp: ENSP00000444789.1:p.Gln106Glu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.676C>G
  hgvsp: ENSP00000420920.1:p.Gln226Glu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.313C>G
  hgvsp: ENSP00000423176.1:p.Gln105Glu
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln226Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

4-167713365-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713365
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713365
    reference: chr 4
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.665G>A
  hgvsp: ENSP00000425570.1:p.Ser222Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.521G>A
  hgvsp: ENSP00000411344.2:p.Ser174Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.380G>A
  hgvsp: ENSP00000445430.1:p.Ser127Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*181G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.665G>A
  hgvsp: ENSP00000425502.1:p.Ser222Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.386G>A
  hgvsp: ENSP00000438142.1:p.Ser129Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.311G>A
  hgvsp: ENSP00000423176.1:p.Ser104Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.674G>A
  hgvsp: ENSP00000423606.1:p.Ser225Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.674G>A
  hgvsp: ENSP00000420920.1:p.Ser225Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.380G>A
  hgvsp: ENSP00000426318.1:p.Ser127Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*310G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37485G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.314G>A
  hgvsp: ENSP00000444789.1:p.Ser105Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.665G>A
  hgvsp: ENSP00000426177.1:p.Ser222Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.665G>A
  hgvsp: ENSP00000350153.4:p.Ser222Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*288G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.674G>A
  hgvsp: ENSP00000349677.3:p.Ser225Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*424G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*554G>A
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser225Asn
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

4-167713383-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713383
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713383
    reference: chr 4
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.656C>A
  hgvsp: ENSP00000423421.1:p.Ala219Asp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.296C>A
  hgvsp: ENSP00000444789.1:p.Ala99Asp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.647C>A
  hgvsp: ENSP00000425502.1:p.Ala216Asp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.647C>A
  hgvsp: ENSP00000425570.1:p.Ala216Asp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.503C>A
  hgvsp: ENSP00000411344.2:p.Ala168Asp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37503C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.656C>A
  hgvsp: ENSP00000420920.1:p.Ala219Asp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.656C>A
  hgvsp: ENSP00000423606.1:p.Ala219Asp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*536C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*270C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.293C>A
  hgvsp: ENSP00000423176.1:p.Ala98Asp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37503C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.368C>A
  hgvsp: ENSP00000438142.1:p.Ala123Asp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.647C>A
  hgvsp: ENSP00000426177.1:p.Ala216Asp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.362C>A
  hgvsp: ENSP00000426318.1:p.Ala121Asp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.656C>A
  hgvsp: ENSP00000349677.3:p.Ala219Asp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.362C>A
  hgvsp: ENSP00000445430.1:p.Ala121Asp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*292C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.578C>A
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala219Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

4-167713396-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713396
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713396
    reference: chr 4
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.634G>A
  hgvsp: ENSP00000350153.4:p.Asp212Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*150G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.643G>A
  hgvsp: ENSP00000423606.1:p.Asp215Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.490G>A
  hgvsp: ENSP00000411344.2:p.Asp164Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.643G>A
  hgvsp: ENSP00000349677.3:p.Asp215Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.349G>A
  hgvsp: ENSP00000445430.1:p.Asp117Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.634G>A
  hgvsp: ENSP00000425502.1:p.Asp212Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37516G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.634G>A
  hgvsp: ENSP00000426177.1:p.Asp212Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*523G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.349G>A
  hgvsp: ENSP00000426318.1:p.Asp117Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*279G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.355G>A
  hgvsp: ENSP00000438142.1:p.Asp119Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.280G>A
  hgvsp: ENSP00000423176.1:p.Asp94Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37516G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.565G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.643G>A
  hgvsp: ENSP00000420920.1:p.Asp215Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.283G>A
  hgvsp: ENSP00000444789.1:p.Asp95Asn
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.634G>A
  hgvsp: ENSP00000425570.1:p.Asp212Asn
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp215Asn
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

4-167713399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713399
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713399
    reference: chr 4
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.631C>T
  hgvsp: ENSP00000426177.1:p.Arg211Trp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.346C>T
  hgvsp: ENSP00000445430.1:p.Arg116Trp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37519C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.562C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.277C>T
  hgvsp: ENSP00000423176.1:p.Arg93Trp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.640C>T
  hgvsp: ENSP00000423421.1:p.Arg214Trp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.640C>T
  hgvsp: ENSP00000423606.1:p.Arg214Trp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.631C>T
  hgvsp: ENSP00000425502.1:p.Arg211Trp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*520C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*390C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.280C>T
  hgvsp: ENSP00000444789.1:p.Arg94Trp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*276C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.487C>T
  hgvsp: ENSP00000411344.2:p.Arg163Trp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.352C>T
  hgvsp: ENSP00000438142.1:p.Arg118Trp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.346C>T
  hgvsp: ENSP00000426318.1:p.Arg116Trp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.640C>T
  hgvsp: ENSP00000349677.3:p.Arg214Trp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.631C>T
  hgvsp: ENSP00000350153.4:p.Arg211Trp
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37519C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.631C>T
  hgvsp: ENSP00000425570.1:p.Arg211Trp
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg214Trp
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

4-167713405-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713405
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713405
    reference: chr 4
allele count: 16
allele frequency: 1.319957761351637e-4
allele num: 121216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37525A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*384A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.340A>G
  hgvsp: ENSP00000445430.1:p.Arg114Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.634A>G
  hgvsp: ENSP00000423606.1:p.Arg212Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*248A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.274A>G
  hgvsp: ENSP00000444789.1:p.Arg92Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.481A>G
  hgvsp: ENSP00000411344.2:p.Arg161Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.634A>G
  hgvsp: ENSP00000423421.1:p.Arg212Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.625A>G
  hgvsp: ENSP00000425502.1:p.Arg209Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.625A>G
  hgvsp: ENSP00000350153.4:p.Arg209Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.625A>G
  hgvsp: ENSP00000425570.1:p.Arg209Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*514A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.340A>G
  hgvsp: ENSP00000426318.1:p.Arg114Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.625A>G
  hgvsp: ENSP00000426177.1:p.Arg209Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*141A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37525A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.634A>G
  hgvsp: ENSP00000349677.3:p.Arg212Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.556A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.346A>G
  hgvsp: ENSP00000438142.1:p.Arg116Gly
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg212Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

4-167713411-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713411
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713411
    reference: chr 4
allele count: 5
allele frequency: 4.125957222075521e-5
allele num: 121184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37531G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.628G>A
  hgvsp: ENSP00000420920.1:p.Ala210Thr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.628G>A
  hgvsp: ENSP00000423421.1:p.Ala210Thr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.619G>A
  hgvsp: ENSP00000426177.1:p.Ala207Thr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*135G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*242G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.475G>A
  hgvsp: ENSP00000411344.2:p.Ala159Thr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.619G>A
  hgvsp: ENSP00000425502.1:p.Ala207Thr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.334G>A
  hgvsp: ENSP00000445430.1:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.628G>A
  hgvsp: ENSP00000349677.3:p.Ala210Thr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.334G>A
  hgvsp: ENSP00000426318.1:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.268G>A
  hgvsp: ENSP00000444789.1:p.Ala90Thr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.619G>A
  hgvsp: ENSP00000350153.4:p.Ala207Thr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37531G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*264G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.340G>A
  hgvsp: ENSP00000438142.1:p.Ala114Thr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.619G>A
  hgvsp: ENSP00000425570.1:p.Ala207Thr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.628G>A
  hgvsp: ENSP00000423606.1:p.Ala210Thr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*508G>A
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala210Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/4-167713417-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713417
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713417
    reference: chr 4
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.328G>T
  hgvsp: ENSP00000426318.1:p.Glu110Ter
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.613G>T
  hgvsp: ENSP00000425570.1:p.Glu205Ter
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.262G>T
  hgvsp: ENSP00000444789.1:p.Glu88Ter
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.613G>T
  hgvsp: ENSP00000350153.4:p.Glu205Ter
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.613G>T
  hgvsp: ENSP00000425502.1:p.Glu205Ter
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.469G>T
  hgvsp: ENSP00000411344.2:p.Glu157Ter
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*258G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*372G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.622G>T
  hgvsp: ENSP00000423606.1:p.Glu208Ter
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.622G>T
  hgvsp: ENSP00000420920.1:p.Glu208Ter
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.613G>T
  hgvsp: ENSP00000426177.1:p.Glu205Ter
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*129G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.622G>T
  hgvsp: ENSP00000349677.3:p.Glu208Ter
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*236G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.334G>T
  hgvsp: ENSP00000438142.1:p.Glu112Ter
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*502G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.259G>T
  hgvsp: ENSP00000423176.1:p.Glu87Ter
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.622G>T
  hgvsp: ENSP00000423421.1:p.Glu208Ter
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37537G>T
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu208Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

4-167713450-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713450
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713450
    reference: chr 4
allele count: 3
allele frequency: 2.485295335929086e-5
allele num: 120710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.311-10C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37570C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.590-10C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.599-10C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.590-10C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.599-10C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*213-10C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.599-10C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.305-10C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*479-10C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*235-10C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*106-10C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37570C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-10C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.305-10C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.599-10C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*349-10C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.590-10C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.521-10C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.590-10C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*235-10C>G
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-167713456-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713456
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713456
    reference: chr 4
allele count: 2
allele frequency: 1.659420530350801e-5
allele num: 120524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.599-16G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*479-16G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.599-16G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.599-16G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.305-16G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*235-16G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.590-16G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*349-16G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*235-16G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.590-16G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.590-16G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.599-16G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.590-16G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37576G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37576G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.305-16G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*213-16G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.239-16G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-16G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.521-16G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.446-16G>T
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

4-167713459-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713459
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713459
    reference: chr 4
allele count: 1
allele frequency: 8.302062232258493e-6
allele num: 120452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*349-19G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.599-19G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*235-19G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*106-19G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.599-19G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.590-19G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.599-19G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.599-19G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-19G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.590-19G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*235-19G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37579G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.446-19G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.305-19G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*479-19G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.311-19G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.521-19G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.590-19G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.305-19G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*213-19G>A
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

4-167713464-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713464
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713464
    reference: chr 4
allele count: 1
allele frequency: 8.310203267571925e-6
allele num: 120334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-24C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*479-24C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.305-24C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*213-24C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.446-24C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.590-24C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.599-24C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*235-24C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37584C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.599-24C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.599-24C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37584C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.521-24C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.599-24C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.590-24C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.305-24C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.239-24C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*106-24C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*235-24C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.311-24C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.590-24C>G
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

4-167713469-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713469
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713469
    reference: chr 4
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-29C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.311-29C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.239-29C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.590-29C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.590-29C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.599-29C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.590-29C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37589C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*235-29C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.521-29C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*235-29C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*479-29C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.590-29C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.599-29C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.599-29C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.446-29C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.305-29C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.305-29C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.599-29C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37589C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*106-29C>G
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

4-167713475-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713475
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713475
    reference: chr 4
allele count: 1
allele frequency: 8.332500083325001e-6
allele num: 120012
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*349-35A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.239-35A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.590-35A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.446-35A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37595A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.599-35A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*235-35A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.590-35A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.305-35A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*213-35A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.305-35A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*235-35A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.521-35A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.590-35A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-35A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.599-35A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*106-35A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*479-35A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37595A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.590-35A>C
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

4-167713476-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713476
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713476
    reference: chr 4
allele count: 4
allele frequency: 3.333000033330001e-5
allele num: 120012
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*235-36T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*349-36T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.305-36T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*479-36T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.599-36T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.590-36T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37596T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*235-36T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.590-36T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.599-36T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-36T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.305-36T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.446-36T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.599-36T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.599-36T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.590-36T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*106-36T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*213-36T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.239-36T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.521-36T>C
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

4-167713482-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713482
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713482
    reference: chr 4
allele count: 3
allele frequency: 2.504257237303416e-5
allele num: 119796
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.311-42C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.599-42C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.590-42C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37602C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.521-42C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*235-42C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-42C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.239-42C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.305-42C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*235-42C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*106-42C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*479-42C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.446-42C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.599-42C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.599-42C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*349-42C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.590-42C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.590-42C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.590-42C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.305-42C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.599-42C>T
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

4-167713485-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713485
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713485
    reference: chr 4
allele count: 20
allele frequency: 1.67123470820242e-4
allele num: 119672
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.590-45A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*479-45A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.599-45A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.599-45A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.311-45A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.590-45A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.239-45A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*235-45A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*235-45A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.599-45A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-45A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37605A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.590-45A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*106-45A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.599-45A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.305-45A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.590-37605A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.521-45A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.590-45A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.446-45A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.305-45A>G
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

4-167713489-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167713489
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167713489
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 119354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.305-49C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.599-49C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.599-49C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*479-49C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*235-49C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.323-37609C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.590-49C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.446-49C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.521-49C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-49C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.590-49C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.590-49C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*235-49C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.311-49C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.599-49C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.239-49C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.590-49C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*106-49C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*213-49C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.599-49C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*349-49C>T
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS

4-167810230-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810230
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810230
    reference: chr 4
allele count: 1
allele frequency: 8.844078889183692e-6
allele num: 113070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.589+51A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.598+51A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*234+51A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.445+51A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.598+51A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.520+51A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-96790A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.304+51A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.589+51A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.598+51A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.310+51A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*478+51A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.589+51A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.589+51A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.589+51A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422336
  ensembl transcript: ENST00000502741
  gene symbol: SPOCK3
  hgvsc: ENST00000502741.1:c.*105+51A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.598+51A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*348+51A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.322+51A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*234+51A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*212+51A>T
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

4-167810232-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810232
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810232
    reference: chr 4
allele count: 2
allele frequency: 1.768753205865186e-5
allele num: 113074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.589+49A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.589+49A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.520+49A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.310+49A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.589+49A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*105+49A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*478+49A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.589+49A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.322+49A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.598+49A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.598+49A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.304+49A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*234+49A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-96792A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422336
  ensembl transcript: ENST00000502741
  gene symbol: SPOCK3
  hgvsc: ENST00000502741.1:c.*105+49A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.445+49A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420928
  ensembl transcript: ENST00000507086
  gene symbol: SPOCK3
  hgvsc: ENST00000507086.1:c.*105+49A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.238+49A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*212+49A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.598+49A>T
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-167810234-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810234
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810234
    reference: chr 4
allele count: 2
allele frequency: 1.772075632187982e-5
allele num: 112862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.520+47C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.589+47C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-96794C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*234+47C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*212+47C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.238+47C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*105+47C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.310+47C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*478+47C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.598+47C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.322+47C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.589+47C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.598+47C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.589+47C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.445+47C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.598+47C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.304+47C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.589+47C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.598+47C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422336
  ensembl transcript: ENST00000502741
  gene symbol: SPOCK3
  hgvsc: ENST00000502741.1:c.*105+47C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.589+47C>T
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

4-167810242-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810242
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810242
    reference: chr 4
allele count: 6
allele frequency: 5.292778885340767e-5
allele num: 113362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.445+39A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.598+39A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*348+39A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.598+39A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*478+39A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.520+39A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.304+39A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*234+39A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.238+39A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-96802A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.589+39A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.589+39A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422336
  ensembl transcript: ENST00000502741
  gene symbol: SPOCK3
  hgvsc: ENST00000502741.1:c.*105+39A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.589+39A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.598+39A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.322+39A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*212+39A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.589+39A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*105+39A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.304+39A>T
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

4-167810250-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810250
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810250
    reference: chr 4
allele count: 3
allele frequency: 2.626510243389949e-5
allele num: 114220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.589+31C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.445+31C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.589+31C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.322+31C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*348+31C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*234+31C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*234+31C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*105+31C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.589+31C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.598+31C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-96810C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.520+31C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*212+31C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.598+31C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.304+31C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.589+31C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*478+31C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.589+31C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.310+31C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.598+31C>T
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

4-167810261-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810261
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810261
    reference: chr 4
allele count: 3
allele frequency: 2.550586634926033e-5
allele num: 117620
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-96821T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.589+20T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*478+20T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422336
  ensembl transcript: ENST00000502741
  gene symbol: SPOCK3
  hgvsc: ENST00000502741.1:c.*105+20T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.238+20T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.304+20T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*234+20T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.589+20T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.589+20T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.445+20T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*105+20T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.589+20T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.322+20T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*212+20T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.304+20T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420928
  ensembl transcript: ENST00000507086
  gene symbol: SPOCK3
  hgvsc: ENST00000507086.1:c.*105+20T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.598+20T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*234+20T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*348+20T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.520+20T>C
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

4-167810265-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810265
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810265
    reference: chr 4
allele count: 1
allele frequency: 8.419776370739593e-6
allele num: 118768
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.598+16A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.598+16A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.304+16A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.310+16A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.598+16A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.589+16A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.520+16A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.589+16A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*478+16A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.238+16A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*348+16A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*234+16A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.589+16A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.589+16A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.445+16A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*105+16A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422336
  ensembl transcript: ENST00000502741
  gene symbol: SPOCK3
  hgvsc: ENST00000502741.1:c.*105+16A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-96825A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420928
  ensembl transcript: ENST00000507086
  gene symbol: SPOCK3
  hgvsc: ENST00000507086.1:c.*105+16A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*212+16A>G
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

4-167810271-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810271
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810271
    reference: chr 4
allele count: 1
allele frequency: 8.331805835596807e-6
allele num: 120022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.589+10A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-96831A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.598+10A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.589+10A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.310+10A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*234+10A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.238+10A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.598+10A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.322+10A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*478+10A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420928
  ensembl transcript: ENST00000507086
  gene symbol: SPOCK3
  hgvsc: ENST00000507086.1:c.*105+10A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.598+10A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.304+10A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*105+10A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.589+10A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.445+10A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.520+10A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.598+10A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*348+10A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*212+10A>G
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

4-167810310-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810310
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810310
    reference: chr 4
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.275C>T
  hgvsp: ENSP00000426318.1:p.Pro92Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.416C>T
  hgvsp: ENSP00000411344.2:p.Pro139Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.209C>T
  hgvsp: ENSP00000444789.1:p.Pro70Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*76C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420928
  ensembl transcript: ENST00000507086
  gene symbol: SPOCK3
  hgvsc: ENST00000507086.1:c.*76C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*319C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.275C>T
  hgvsp: ENSP00000445430.1:p.Pro92Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422336
  ensembl transcript: ENST00000502741
  gene symbol: SPOCK3
  hgvsc: ENST00000502741.1:c.*76C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*205C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.293C>T
  hgvsp: ENSP00000441396.1:p.Pro98Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.560C>T
  hgvsp: ENSP00000426177.1:p.Pro187Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.569C>T
  hgvsp: ENSP00000420920.1:p.Pro190Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.560C>T
  hgvsp: ENSP00000425502.1:p.Pro187Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.560C>T
  hgvsp: ENSP00000350153.4:p.Pro187Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*205C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.560C>T
  hgvsp: ENSP00000426716.1:p.Pro187Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.560C>T
  hgvsp: ENSP00000425570.1:p.Pro187Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.569C>T
  hgvsp: ENSP00000349677.3:p.Pro190Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.569C>T
  hgvsp: ENSP00000423606.1:p.Pro190Leu
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro190Leu
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

4-167810316-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810316
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810316
    reference: chr 4
allele count: 2
allele frequency: 1.65000165000165e-5
allele num: 121212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.275A>G
  hgvsp: ENSP00000438142.1:p.Asp92Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.563A>G
  hgvsp: ENSP00000349677.3:p.Asp188Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.554A>G
  hgvsp: ENSP00000426177.1:p.Asp185Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.203A>G
  hgvsp: ENSP00000444789.1:p.Asp68Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.269A>G
  hgvsp: ENSP00000426318.1:p.Asp90Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420928
  ensembl transcript: ENST00000507086
  gene symbol: SPOCK3
  hgvsc: ENST00000507086.1:c.*70A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.269A>G
  hgvsp: ENSP00000445430.1:p.Asp90Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.563A>G
  hgvsp: ENSP00000423606.1:p.Asp188Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*199A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.554A>G
  hgvsp: ENSP00000425502.1:p.Asp185Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.287A>G
  hgvsp: ENSP00000441396.1:p.Asp96Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.554A>G
  hgvsp: ENSP00000425570.1:p.Asp185Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.563A>G
  hgvsp: ENSP00000423421.1:p.Asp188Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-96876A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.410A>G
  hgvsp: ENSP00000411344.2:p.Asp137Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*177A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*199A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.554A>G
  hgvsp: ENSP00000426716.1:p.Asp185Gly
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.563A>G
  hgvsp: ENSP00000420920.1:p.Asp188Gly
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp188Gly
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

4-167810318-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810318
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810318
    reference: chr 4
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.552A>G
  hgvsp: ENST00000504953.1:c.552A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.273A>G
  hgvsp: ENST00000534949.1:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*441A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.267A>G
  hgvsp: ENST00000541637.1:c.267A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.561A>G
  hgvsp: ENST00000506886.1:c.561A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*197A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.483A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.285A>G
  hgvsp: ENST00000535728.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*197A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.552A>G
  hgvsp: ENST00000357545.4:c.552A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.267A>G
  hgvsp: ENST00000512681.1:c.267A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-96878A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.408A>G
  hgvsp: ENST00000421836.2:c.408A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*311A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.552A>G
  hgvsp: ENST00000510741.1:c.552A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.552A>G
  hgvsp: ENST00000512648.1:c.552A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.201A>G
  hgvsp: ENST00000541354.1:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.561A>G
  hgvsp: ENST00000511531.1:c.561A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*175A>G
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser187Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

4-167810322-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810322
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810322
    reference: chr 4
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.263C>A
  hgvsp: ENSP00000426318.1:p.Pro88His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*193C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.548C>A
  hgvsp: ENSP00000425502.1:p.Pro183His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.281C>A
  hgvsp: ENSP00000441396.1:p.Pro94His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.548C>A
  hgvsp: ENSP00000426716.1:p.Pro183His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.557C>A
  hgvsp: ENSP00000423421.1:p.Pro186His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.548C>A
  hgvsp: ENSP00000350153.4:p.Pro183His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*437C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.557C>A
  hgvsp: ENSP00000423606.1:p.Pro186His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.548C>A
  hgvsp: ENSP00000426177.1:p.Pro183His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*193C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*307C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.263C>A
  hgvsp: ENSP00000445430.1:p.Pro88His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*171C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*64C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.269C>A
  hgvsp: ENSP00000438142.1:p.Pro90His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.548C>A
  hgvsp: ENSP00000425570.1:p.Pro183His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.557C>A
  hgvsp: ENSP00000420920.1:p.Pro186His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.197C>A
  hgvsp: ENSP00000444789.1:p.Pro66His
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro186His
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

4-167810334-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810334
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810334
    reference: chr 4
allele count: 13
allele frequency: 1.072164948453608e-4
allele num: 121250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*52A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.545A>T
  hgvsp: ENSP00000423606.1:p.His182Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.536A>T
  hgvsp: ENSP00000425502.1:p.His179Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.536A>T
  hgvsp: ENSP00000350153.4:p.His179Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.392A>T
  hgvsp: ENSP00000411344.2:p.His131Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*181A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.251A>T
  hgvsp: ENSP00000445430.1:p.His84Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.536A>T
  hgvsp: ENSP00000426177.1:p.His179Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.269A>T
  hgvsp: ENSP00000441396.1:p.His90Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.185A>T
  hgvsp: ENSP00000444789.1:p.His62Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.257A>T
  hgvsp: ENSP00000438142.1:p.His86Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.251A>T
  hgvsp: ENSP00000426318.1:p.His84Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422336
  ensembl transcript: ENST00000502741
  gene symbol: SPOCK3
  hgvsc: ENST00000502741.1:c.*52A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.536A>T
  hgvsp: ENSP00000426716.1:p.His179Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*181A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.545A>T
  hgvsp: ENSP00000423421.1:p.His182Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420928
  ensembl transcript: ENST00000507086
  gene symbol: SPOCK3
  hgvsc: ENST00000507086.1:c.*52A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.536A>T
  hgvsp: ENSP00000425570.1:p.His179Leu
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*159A>T
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His182Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-167810335-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810335
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810335
    reference: chr 4
allele count: 3
allele frequency: 2.474349246148263e-5
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.544C>T
  hgvsp: ENSP00000420920.1:p.His182Tyr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.184C>T
  hgvsp: ENSP00000444789.1:p.His62Tyr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.535C>T
  hgvsp: ENSP00000426177.1:p.His179Tyr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.535C>T
  hgvsp: ENSP00000426716.1:p.His179Tyr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*424C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.544C>T
  hgvsp: ENSP00000349677.3:p.His182Tyr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.535C>T
  hgvsp: ENSP00000350153.4:p.His179Tyr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*180C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*51C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.250C>T
  hgvsp: ENSP00000445430.1:p.His84Tyr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.250C>T
  hgvsp: ENSP00000426318.1:p.His84Tyr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.544C>T
  hgvsp: ENSP00000423421.1:p.His182Tyr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*158C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*294C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.535C>T
  hgvsp: ENSP00000425502.1:p.His179Tyr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.544C>T
  hgvsp: ENSP00000423606.1:p.His182Tyr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.391C>T
  hgvsp: ENSP00000411344.2:p.His131Tyr
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-96895C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.535C>T
  hgvsp: ENSP00000425570.1:p.His179Tyr
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His182Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

4-167810354-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810354
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810354
    reference: chr 4
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.516C>T
  hgvsp: ENST00000511269.1:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.516C>T
  hgvsp: ENST00000357545.4:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.516C>T
  hgvsp: ENST00000510741.1:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*275C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.165C>T
  hgvsp: ENST00000541354.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.516C>T
  hgvsp: ENST00000512648.1:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.525C>T
  hgvsp: ENST00000511531.1:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.525C>T
  hgvsp: ENST00000357154.3:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.372C>T
  hgvsp: ENST00000421836.2:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.525C>T
  hgvsp: ENST00000502330.1:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.231C>T
  hgvsp: ENST00000512681.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*405C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.525C>T
  hgvsp: ENST00000506886.1:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.231C>T
  hgvsp: ENST00000541637.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.516C>T
  hgvsp: ENST00000504953.1:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.447C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420928
  ensembl transcript: ENST00000507086
  gene symbol: SPOCK3
  hgvsc: ENST00000507086.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.249C>T
  hgvsp: ENST00000535728.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile175Ile
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/4-167810357-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810357
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810357
    reference: chr 4
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422336
  ensembl transcript: ENST00000502741
  gene symbol: SPOCK3
  hgvsc: ENST00000502741.1:c.*29G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.234G>T
  hgvsp: ENSP00000438142.1:p.Gln78His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420928
  ensembl transcript: ENST00000507086
  gene symbol: SPOCK3
  hgvsc: ENST00000507086.1:c.*29G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.513G>T
  hgvsp: ENSP00000350153.4:p.Gln171His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.513G>T
  hgvsp: ENSP00000425570.1:p.Gln171His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.522G>T
  hgvsp: ENSP00000349677.3:p.Gln174His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.162G>T
  hgvsp: ENSP00000444789.1:p.Gln54His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.246G>T
  hgvsp: ENSP00000441396.1:p.Gln82His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*402G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.228G>T
  hgvsp: ENSP00000426318.1:p.Gln76His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.228G>T
  hgvsp: ENSP00000445430.1:p.Gln76His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.522G>T
  hgvsp: ENSP00000423421.1:p.Gln174His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.513G>T
  hgvsp: ENSP00000426716.1:p.Gln171His
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.444G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*158G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*136G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*158G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*272G>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.513G>T
  hgvsp: ENSP00000425502.1:p.Gln171His
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln174His
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-167810357-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810357
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810357
    reference: chr 4
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.234G>A
  hgvsp: ENST00000534949.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.513G>A
  hgvsp: ENST00000510741.1:c.513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.513G>A
  hgvsp: ENST00000504953.1:c.513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.246G>A
  hgvsp: ENST00000535728.1:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422336
  ensembl transcript: ENST00000502741
  gene symbol: SPOCK3
  hgvsc: ENST00000502741.1:c.*29G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.228G>A
  hgvsp: ENST00000512681.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.522G>A
  hgvsp: ENST00000511531.1:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.162G>A
  hgvsp: ENST00000541354.1:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.228G>A
  hgvsp: ENST00000541637.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.369G>A
  hgvsp: ENST00000421836.2:c.369G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*29G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*136G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.513G>A
  hgvsp: ENST00000511269.1:c.513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.513G>A
  hgvsp: ENST00000512648.1:c.513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.522G>A
  hgvsp: ENST00000506886.1:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420928
  ensembl transcript: ENST00000507086
  gene symbol: SPOCK3
  hgvsc: ENST00000507086.1:c.*29G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*158G>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.522G>A
  hgvsp: ENST00000357154.3:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*272G>A
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln174Gln
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

4-167810358-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810358
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810358
    reference: chr 4
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.227A>C
  hgvsp: ENSP00000445430.1:p.Gln76Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*157A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.512A>C
  hgvsp: ENSP00000425570.1:p.Gln171Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.512A>C
  hgvsp: ENSP00000426716.1:p.Gln171Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.512A>C
  hgvsp: ENSP00000350153.4:p.Gln171Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.521A>C
  hgvsp: ENSP00000423421.1:p.Gln174Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.521A>C
  hgvsp: ENSP00000349677.3:p.Gln174Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.161A>C
  hgvsp: ENSP00000444789.1:p.Gln54Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.227A>C
  hgvsp: ENSP00000426318.1:p.Gln76Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.521A>C
  hgvsp: ENSP00000423606.1:p.Gln174Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*135A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.521A>C
  hgvsp: ENSP00000420920.1:p.Gln174Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.512A>C
  hgvsp: ENSP00000425502.1:p.Gln171Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.512A>C
  hgvsp: ENSP00000426177.1:p.Gln171Pro
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*28A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*401A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*157A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420928
  ensembl transcript: ENST00000507086
  gene symbol: SPOCK3
  hgvsc: ENST00000507086.1:c.*28A>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.368A>C
  hgvsp: ENSP00000411344.2:p.Gln123Pro
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln174Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

4-167810361-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810361
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810361
    reference: chr 4
allele count: 2
allele frequency: 1.650137786505173e-5
allele num: 121202
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.518A>G
  hgvsp: ENSP00000349677.3:p.Lys173Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.230A>G
  hgvsp: ENSP00000438142.1:p.Lys77Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.158A>G
  hgvsp: ENSP00000444789.1:p.Lys53Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*25A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-96921A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420928
  ensembl transcript: ENST00000507086
  gene symbol: SPOCK3
  hgvsc: ENST00000507086.1:c.*25A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.224A>G
  hgvsp: ENSP00000445430.1:p.Lys75Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.518A>G
  hgvsp: ENSP00000423606.1:p.Lys173Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*154A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.509A>G
  hgvsp: ENSP00000426177.1:p.Lys170Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.509A>G
  hgvsp: ENSP00000425502.1:p.Lys170Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.509A>G
  hgvsp: ENSP00000426716.1:p.Lys170Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*132A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.224A>G
  hgvsp: ENSP00000426318.1:p.Lys75Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.518A>G
  hgvsp: ENSP00000420920.1:p.Lys173Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.518A>G
  hgvsp: ENSP00000423421.1:p.Lys173Arg
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.440A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*154A>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.509A>G
  hgvsp: ENSP00000425570.1:p.Lys170Arg
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys173Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ

4-167810369-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810369
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810369
    reference: chr 4
allele count: 11
allele frequency: 9.079053797520593e-5
allele num: 121158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.501C>G
  hgvsp: ENST00000504953.1:c.501C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.501C>G
  hgvsp: ENST00000357545.4:c.501C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.501C>G
  hgvsp: ENST00000512648.1:c.501C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420928
  ensembl transcript: ENST00000507086
  gene symbol: SPOCK3
  hgvsc: ENST00000507086.1:c.*17C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.*17C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.510C>G
  hgvsp: ENST00000502330.1:c.510C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.216C>G
  hgvsp: ENST00000512681.1:c.216C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.501C>G
  hgvsp: ENST00000511269.1:c.501C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*390C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*146C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.510C>G
  hgvsp: ENST00000357154.3:c.510C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*260C>G
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.222C>G
  hgvsp: ENST00000534949.1:c.222C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.216C>G
  hgvsp: ENST00000541637.1:c.216C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.357C>G
  hgvsp: ENST00000421836.2:c.357C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.150C>G
  hgvsp: ENST00000541354.1:c.150C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.501C>G
  hgvsp: ENST00000510741.1:c.501C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.510C>G
  hgvsp: ENST00000506886.1:c.510C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.510C>G
  hgvsp: ENST00000511531.1:c.510C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val170Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

4-167810401-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810401
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810401
    reference: chr 4
allele count: 4
allele frequency: 3.324854953202667e-5
allele num: 120306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.475-6A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.196-6A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420928
  ensembl transcript: ENST00000507086
  gene symbol: SPOCK3
  hgvsc: ENST00000507086.1:c.360-6A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*120-6A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*364-6A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.475-6A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*98-6A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*234-6A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.475-6A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.475-6A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*120-6A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.484-6A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.475-6A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.208-6A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423367
  ensembl transcript: ENST00000509854
  gene symbol: SPOCK3
  hgvsc: ENST00000509854.1:c.475-6A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.243-6A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422336
  ensembl transcript: ENST00000502741
  gene symbol: SPOCK3
  hgvsc: ENST00000502741.1:c.360-6A>T
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.331-6A>T
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.484-6A>T
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

4-167810407-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810407
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810407
    reference: chr 4
allele count: 1
allele frequency: 8.349057391420508e-6
allele num: 119774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.475-12C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*364-12C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.484-12C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.475-12C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.208-12C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420928
  ensembl transcript: ENST00000507086
  gene symbol: SPOCK3
  hgvsc: ENST00000507086.1:c.360-12C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.475-12C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.475-12C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.124-12C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.406-12C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422336
  ensembl transcript: ENST00000502741
  gene symbol: SPOCK3
  hgvsc: ENST00000502741.1:c.360-12C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.331-12C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*98-12C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.243-12C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.484-12C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*234-12C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*120-12C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.475-12C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423367
  ensembl transcript: ENST00000509854
  gene symbol: SPOCK3
  hgvsc: ENST00000509854.1:c.475-12C>A
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*120-12C>A
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

4-167810409-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810409
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810409
    reference: chr 4
allele count: 12
allele frequency: 1.024397739495655e-4
allele num: 117142
alternate allele: A
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25306
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15210
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6334
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4036
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36030
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 9.015506671474937e-5
  allele num: 11092
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 882
  num of homozygotes: 0
population: African
  type: Population
  allele count: 11
  allele frequency: 1.100880704563651e-3
  allele num: 9992
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6514
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

4-167810409-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810409
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810410
    reference: chr 4
allele count: 34
allele frequency: 2.902460261904355e-4
allele num: 117142
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.208-15dupT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.406-15dupT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.475-15dupT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420928
  ensembl transcript: ENST00000507086
  gene symbol: SPOCK3
  hgvsc: ENST00000507086.1:c.360-15dupT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.331-15dupT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*120-15dupT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.196-15dupT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*364-15dupT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422336
  ensembl transcript: ENST00000502741
  gene symbol: SPOCK3
  hgvsc: ENST00000502741.1:c.360-15dupT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*234-15dupT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.484-15dupT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.124-15dupT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.484-15dupT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.475-15dupT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-96970dupT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.475-15dupT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.243-15dupT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.475-15dupT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424674
  ensembl transcript: ENST00000511226
  gene symbol: SPOCK3
  hgvsc: ENST00000511226.1:c.*120-15dupT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.475-15dupT
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

4-167810409-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810409
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810408
    reference: chr 4
allele count: 59
allele frequency: 5.03662221918697e-4
allele num: 117142
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.475-15delT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.475-15delT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000350153
  ensembl transcript: ENST00000357545
  gene symbol: SPOCK3
  hgvsc: ENST00000357545.4:c.475-15delT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.475-15delT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.484-15delT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000444789
  ensembl transcript: ENST00000541354
  gene symbol: SPOCK3
  hgvsc: ENST00000541354.1:c.124-15delT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423367
  ensembl transcript: ENST00000509854
  gene symbol: SPOCK3
  hgvsc: ENST00000509854.1:c.475-15delT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*98-15delT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420928
  ensembl transcript: ENST00000507086
  gene symbol: SPOCK3
  hgvsc: ENST00000507086.1:c.360-15delT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.484-15delT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-96970delT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.406-15delT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*234-15delT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*120-15delT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.208-15delT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.484-15delT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000438142
  ensembl transcript: ENST00000534949
  gene symbol: SPOCK3
  hgvsc: ENST00000534949.1:c.196-15delT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.484-15delT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426318
  ensembl transcript: ENST00000512681
  gene symbol: SPOCK3
  hgvsc: ENST00000512681.1:c.190-15delT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.331-15delT
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.243-15delT
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: GA
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

4-167810410-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 167810410
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 167810410
    reference: chr 4
allele count: 2
allele frequency: 1.706018834447932e-5
allele num: 117232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000422170
  ensembl transcript: ENST00000505187
  gene symbol: SPOCK3
  hgvsc: ENST00000505187.1:c.*234-15T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425502
  ensembl transcript: ENST00000511269
  gene symbol: SPOCK3
  hgvsc: ENST00000511269.1:c.475-15T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423421
  ensembl transcript: ENST00000511531
  gene symbol: SPOCK3
  hgvsc: ENST00000511531.1:c.484-15T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426177
  ensembl transcript: ENST00000512648
  gene symbol: SPOCK3
  hgvsc: ENST00000512648.1:c.475-15T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420928
  ensembl transcript: ENST00000507086
  gene symbol: SPOCK3
  hgvsc: ENST00000507086.1:c.360-15T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423606
  ensembl transcript: ENST00000502330
  gene symbol: SPOCK3
  hgvsc: ENST00000502330.1:c.484-15T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000441396
  ensembl transcript: ENST00000535728
  gene symbol: SPOCK3
  hgvsc: ENST00000535728.1:c.208-15T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425712
  ensembl transcript: ENST00000511905
  gene symbol: SPOCK3
  hgvsc: ENST00000511905.1:c.*120-15T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425859
  ensembl transcript: ENST00000515143
  gene symbol: SPOCK3
  hgvsc: ENST00000515143.1:c.243-15T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423176
  ensembl transcript: ENST00000510403
  gene symbol: SPOCK3
  hgvsc: ENST00000510403.1:c.236-96970T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424980
  ensembl transcript: ENST00000502821
  gene symbol: SPOCK3
  hgvsc: ENST00000502821.1:c.*364-15T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000424677
  ensembl transcript: ENST00000507370
  gene symbol: SPOCK3
  hgvsc: ENST00000507370.1:c.*98-15T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000425570
  ensembl transcript: ENST00000504953
  gene symbol: SPOCK3
  hgvsc: ENST00000504953.1:c.475-15T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000420920
  ensembl transcript: ENST00000506886
  gene symbol: SPOCK3
  hgvsc: ENST00000506886.1:c.484-15T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000349677
  ensembl transcript: ENST00000357154
  gene symbol: SPOCK3
  hgvsc: ENST00000357154.3:c.484-15T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000445430
  ensembl transcript: ENST00000541637
  gene symbol: SPOCK3
  hgvsc: ENST00000541637.1:c.190-15T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000426716
  ensembl transcript: ENST00000510741
  gene symbol: SPOCK3
  hgvsc: ENST00000510741.1:c.475-15T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000423367
  ensembl transcript: ENST00000509854
  gene symbol: SPOCK3
  hgvsc: ENST00000509854.1:c.475-15T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl transcript: ENST00000507137
  gene symbol: SPOCK3
  hgvsc: ENST00000507137.1:n.406-15T>C
  variant of: http://identifiers.org/hgnc/13565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196104
  ensembl protein: ENSP00000411344
  ensembl transcript: ENST00000421836
  gene symbol: SPOCK3
  hgvsc: ENST00000421836.2:c.331-15T>C
  variant of: http://identifiers.org/hgnc/13565
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

4-167810413-A-G
type: Variant
location: Region
allele count: 3
allele frequency: 2.516018652084941e-5
allele num: 119236
alternate allele: G
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000426318
ensembl transcript: ENST00000512681
gene symbol: SPOCK3
hgvsc: ENST00000512681.1:c.424+37G>A
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 1353
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11483
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 588
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22227
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1009
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2144
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 476
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4386
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1084
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 989
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 825
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12444
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29268
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3048
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2684
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4012
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7659
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506432466632521e-5
allele num: 66382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

DP
type: SiteQuality
SIO_000300: 1.886695e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.323e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.27e-1

QD
type: SiteQuality
SIO_000300: 7.96e0

FS
type: SiteQuality
SIO_000300: 5.633e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.986e0

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000426177
ensembl transcript: ENST00000512648
gene symbol: SPOCK3
hgvsc: ENST00000512648.1:c.709+35C>A
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 461
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 919
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4402
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22358
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 852
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 254
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12620
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 989
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 235
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 588
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 476
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2144
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 97
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1353
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 826
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 298
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11484
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2697
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7659
bin: 9.75e1
variant carriers: 5

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

GenotypeQuality
all individuals: 326
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3062
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8352
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29613
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4023
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.609603340292275e-4
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011957471160507e-5
allele num: 66402
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.3688e1

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

DP
type: SiteQuality
SIO_000300: 1.889813e6

VQSLOD
type: SiteQuality
SIO_000300: -1.967e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

QD
type: SiteQuality
SIO_000300: 1.114e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.172e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423421
ensembl transcript: ENST00000511531
gene symbol: SPOCK3
hgvsc: ENST00000511531.1:c.718+23T>C
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 491
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 826
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 211
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 22798
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1351
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2146
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 235
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 315
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4404
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 13092
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 588
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11578
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 476
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 298
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 133
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 992
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30738
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8423
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3073
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2707
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1547
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4036
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7663
bin: 9.75e1
variant carriers: 12

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

East Asian
type: Population
allele count: 11
allele frequency: 1.274328081556997e-3
allele num: 8632
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.067e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.256e0

VQSLOD
type: SiteQuality
SIO_000300: 2.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

DP
type: SiteQuality
SIO_000300: 1.901034e6

QD
type: SiteQuality
SIO_000300: 1.416e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423176
ensembl transcript: ENST00000510403
gene symbol: SPOCK3
hgvsc: ENST00000510403.1:c.355+15T>A
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 589
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 987
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1351
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13158
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2146
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 825
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11623
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 97
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4409
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 476
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 217
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22979
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3079
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1544
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7653
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31058
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8459
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2710
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4027
bin: 7.75e1
variant carriers: 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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
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: -6.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

DP
type: SiteQuality
SIO_000300: 1.904829e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.583e0

QD
type: SiteQuality
SIO_000300: 1.544e1

FS
type: SiteQuality
SIO_000300: 2.42e0

VQSLOD
type: SiteQuality
SIO_000300: 2.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000438142
ensembl transcript: ENST00000534949
gene symbol: SPOCK3
hgvsc: ENST00000534949.1:c.430+10C>T
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 185
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 825
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 285
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 589
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13174
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4415
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1352
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 987
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 476
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23044
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11636
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2146
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4028
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31203
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1543
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8462
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2712
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7650
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.95e-1

FS
type: SiteQuality
SIO_000300: 3.554e0

QD
type: SiteQuality
SIO_000300: 1.288e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

DP
type: SiteQuality
SIO_000300: 1.906343e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.33e-1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000445430
ensembl transcript: ENST00000541637
gene symbol: SPOCK3
hgvsc: ENST00000541637.1:c.424+7T>C
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000426716
ensembl transcript: ENST00000510741
gene symbol: SPOCK3
hgvsc: ENST00000510741.1:c.590-37434T>C
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000444789
ensembl transcript: ENST00000541354
gene symbol: SPOCK3
hgvsc: ENST00000541354.1:c.358+7T>C
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 191
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23081
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 476
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11635
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 589
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4414
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2150
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1352
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 13205
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 825
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 986
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2712
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31281
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7652
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1543
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8480
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4031
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3086
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 208
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 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: 10374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502494140272853e-5
allele num: 66556
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 2.621e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.358e1

MQ
type: SiteQuality
SIO_000300: 5.88e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

DP
type: SiteQuality
SIO_000300: 1.907212e6

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.598e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000350153
ensembl transcript: ENST00000357545
gene symbol: SPOCK3
hgvsc: ENST00000357545.4:c.699T>C
hgvsp: ENST00000357545.4:c.699T>C(p.%3D)
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424677
ensembl transcript: ENST00000507370
gene symbol: SPOCK3
hgvsc: ENST00000507370.1:c.*322T>C
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425859
ensembl transcript: ENST00000515143
gene symbol: SPOCK3
hgvsc: ENST00000515143.1:c.*215T>C
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 1400
bin: 4.75e1
variant carriers: 128

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 287
bin: 7.75e1
variant carriers: 72

GenotypeDepth
all individuals: 12872
bin: 2.25e1
variant carriers: 33

GenotypeDepth
all individuals: 235
bin: 8.25e1
variant carriers: 65

GenotypeDepth
all individuals: 4348
bin: 3.75e1
variant carriers: 123

GenotypeDepth
all individuals: 882
bin: 5.75e1
variant carriers: 112

GenotypeDepth
all individuals: 127
bin: 1.25e1
variant carriers: 4

GenotypeDepth
all individuals: 148
bin: 9.25e1
variant carriers: 59

GenotypeDepth
all individuals: 524
bin: 6.75e1
variant carriers: 89

GenotypeDepth
all individuals: 128
bin: 1.75e1
variant carriers: 8

GenotypeDepth
all individuals: 646
bin: 6.25e1
variant carriers: 106

GenotypeDepth
all individuals: 2142
bin: 4.25e1
variant carriers: 121

GenotypeDepth
all individuals: 11501
bin: 3.25e1
variant carriers: 98

GenotypeDepth
all individuals: 87
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23073
bin: 2.75e1
variant carriers: 71

GenotypeDepth
all individuals: 390
bin: 7.25e1
variant carriers: 108

GenotypeDepth
all individuals: 169
bin: 8.75e1
variant carriers: 51

GenotypeDepth
all individuals: 685
bin: 9.75e1
variant carriers: 255

GenotypeDepth
all individuals: 1052
bin: 5.25e1
variant carriers: 122

GenotypeQuality
all individuals: 140
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8364
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8584
bin: 9.75e1
variant carriers: 1611

GenotypeQuality
all individuals: 1470
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3911
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31117
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2594
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1102
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3026
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.263547938860583e-4
allele num: 8636
num of homozygotes: 0

Latino
type: Population
allele count: 60
allele frequency: 5.204718945176961e-3
allele num: 11528
num of homozygotes: 1

African
type: Population
allele count: 800
allele frequency: 7.696748123917645e-2
allele num: 10394
num of homozygotes: 28

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.059642749016046e-3
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 200
allele frequency: 3.001200480192077e-3
allele num: 66640
num of homozygotes: 0

South Asian
type: Population
allele count: 588
allele frequency: 3.56406837192387e-2
allele num: 16498
num of homozygotes: 18

Other
type: Population
allele count: 10
allele frequency: 1.108647450110865e-2
allele num: 902
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

QD
type: SiteQuality
SIO_000300: 1.217e1

FS
type: SiteQuality
SIO_000300: 1.153e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.55e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.642e0

DP
type: SiteQuality
SIO_000300: 1.958896e6

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000445430
ensembl transcript: ENST00000541637
gene symbol: SPOCK3
hgvsc: ENST00000541637.1:c.411G>A
hgvsp: ENST00000541637.1:c.411G>A(p.%3D)
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425570
ensembl transcript: ENST00000504953
gene symbol: SPOCK3
hgvsc: ENST00000504953.1:c.696G>A
hgvsp: ENST00000504953.1:c.696G>A(p.%3D)
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422170
ensembl transcript: ENST00000505187
gene symbol: SPOCK3
hgvsc: ENST00000505187.1:c.*455G>A
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 12979
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 179
bin: 8.25e1
variant carriers: 3

GenotypeDepth
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11783
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2098
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4383
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 120
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 806
bin: 5.75e1
variant carriers: 4

GenotypeDepth
all individuals: 226
bin: 7.75e1
variant carriers: 3

GenotypeDepth
all individuals: 93
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 296
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 452
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 23655
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 959
bin: 5.25e1
variant carriers: 6

GenotypeDepth
all individuals: 1330
bin: 4.75e1
variant carriers: 3

GenotypeDepth
all individuals: 557
bin: 6.25e1
variant carriers: 3

GenotypeDepth
all individuals: 449
bin: 9.75e1
variant carriers: 6

GenotypeDepth
all individuals: 124
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3109
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4020
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8605
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31880
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7242
bin: 9.75e1
variant carriers: 39

GenotypeQuality
all individuals: 1137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2680
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1515
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
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: 66640
num of homozygotes: 0

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

South Asian
type: Population
allele count: 40
allele frequency: 2.425418384671356e-3
allele num: 16492
num of homozygotes: 1

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

MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

FS
type: SiteQuality
SIO_000300: 6.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

DP
type: SiteQuality
SIO_000300: 1.904027e6

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.84e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.146e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425859
ensembl transcript: ENST00000515143
gene symbol: SPOCK3
hgvsc: ENST00000515143.1:c.*203A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000441396
ensembl transcript: ENST00000535728
gene symbol: SPOCK3
hgvsc: ENST00000535728.1:c.323-37463A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423421
ensembl transcript: ENST00000511531
gene symbol: SPOCK3
hgvsc: ENST00000511531.1:c.696A>G
hgvsp: ENST00000511531.1:c.696A>G(p.%3D)
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 23755
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4385
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1328
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 954
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12901
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11785
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2096
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 555
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 803
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2684
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31902
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7210
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4021
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3111
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8617
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1519
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
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: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.903017e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

FS
type: SiteQuality
SIO_000300: 2.097e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.494e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.571e0

VQSLOD
type: SiteQuality
SIO_000300: -1.696e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424980
ensembl transcript: ENST00000502821
gene symbol: SPOCK3
hgvsc: ENST00000502821.1:c.*575C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000426716
ensembl transcript: ENST00000510741
gene symbol: SPOCK3
hgvsc: ENST00000510741.1:c.590-37464C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422170
ensembl transcript: ENST00000505187
gene symbol: SPOCK3
hgvsc: ENST00000505187.1:c.*445C>T
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 954
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2101
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 146
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1330
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11797
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4386
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23760
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 554
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12881
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3106
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4013
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2676
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8602
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7208
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31899
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 2.813e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.903294e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

QD
type: SiteQuality
SIO_000300: 1.157e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.106e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000350153
ensembl transcript: ENST00000357545
gene symbol: SPOCK3
hgvsc: ENST00000357545.4:c.678G>C
hgvsp: ENSP00000350153.4:p.Lys226Asn
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423421
ensembl transcript: ENST00000511531
gene symbol: SPOCK3
hgvsc: ENST00000511531.1:c.687G>C
hgvsp: ENSP00000423421.1:p.Lys229Asn
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000438142
ensembl transcript: ENST00000534949
gene symbol: SPOCK3
hgvsc: ENST00000534949.1:c.399G>C
hgvsp: ENSP00000438142.1:p.Lys133Asn
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 803
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 170
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12825
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11780
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 956
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4387
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1328
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 451
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2097
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 554
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23811
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2664
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3095
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31872
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7208
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4006
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8591
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1517
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 62
bin: 3.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
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: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

VQSLOD
type: SiteQuality
SIO_000300: -5.513e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 1.90327e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.22e-1

QD
type: SiteQuality
SIO_000300: 9.74e0

FS
type: SiteQuality
SIO_000300: 4.178e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.055e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425712
ensembl transcript: ENST00000511905
gene symbol: SPOCK3
hgvsc: ENST00000511905.1:c.*319A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000349677
ensembl transcript: ENST00000357154
gene symbol: SPOCK3
hgvsc: ENST00000357154.3:c.683A>G
hgvsp: ENSP00000349677.3:p.Lys228Arg
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000420920
ensembl transcript: ENST00000506886
gene symbol: SPOCK3
hgvsc: ENST00000506886.1:c.683A>G
hgvsp: ENSP00000420920.1:p.Lys228Arg
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 955
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 554
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2095
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 452
bin: 6.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 1328
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4384
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11768
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 803
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12769
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23858
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31786
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4002
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3091
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8580
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1514
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7208
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2666
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
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: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

FS
type: SiteQuality
SIO_000300: 3.637e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.386e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.90317e6

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424677
ensembl transcript: ENST00000507370
gene symbol: SPOCK3
hgvsc: ENST00000507370.1:c.*291A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000441396
ensembl transcript: ENST00000535728
gene symbol: SPOCK3
hgvsc: ENST00000535728.1:c.323-37482A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425570
ensembl transcript: ENST00000504953
gene symbol: SPOCK3
hgvsc: ENST00000504953.1:c.668A>G
hgvsp: ENSP00000425570.1:p.Gln223Arg
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4381
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1328
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 555
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2099
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23851
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12764
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11769
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 954
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3992
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3081
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7206
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31856
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8579
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2660
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
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: 11526
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

DP
type: SiteQuality
SIO_000300: 1.903101e6

VQSLOD
type: SiteQuality
SIO_000300: 1.36e-1

FS
type: SiteQuality
SIO_000300: 3.716e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.37e-1

QD
type: SiteQuality
SIO_000300: 1.129e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425859
ensembl transcript: ENST00000515143
gene symbol: SPOCK3
hgvsc: ENST00000515143.1:c.*184A>C
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424980
ensembl transcript: ENST00000502821
gene symbol: SPOCK3
hgvsc: ENST00000502821.1:c.*557A>C
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000426716
ensembl transcript: ENST00000510741
gene symbol: SPOCK3
hgvsc: ENST00000510741.1:c.590-37482A>C
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 11769
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 954
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4381
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 555
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12764
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1328
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23851
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2099
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2660
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7206
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8579
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3081
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31856
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3992
bin: 7.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.36e-1

FS
type: SiteQuality
SIO_000300: 3.716e0

DP
type: SiteQuality
SIO_000300: 1.903101e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.129e1

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000349677
ensembl transcript: ENST00000357154
gene symbol: SPOCK3
hgvsc: ENST00000357154.3:c.676C>G
hgvsp: ENSP00000349677.3:p.Gln226Glu
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000196104
ensembl transcript: ENST00000507137
gene symbol: SPOCK3
hgvsc: ENST00000507137.1:n.598C>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424980
ensembl transcript: ENST00000502821
gene symbol: SPOCK3
hgvsc: ENST00000502821.1:c.*556C>G
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 11783
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4383
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 954
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12745
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23864
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2097
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 554
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 200
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 116
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1331
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2655
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3081
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3995
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7205
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31883
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8559
bin: 6.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.62e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.903396e6

VQSLOD
type: SiteQuality
SIO_000300: -3.268e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 4.7e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000196104
ensembl transcript: ENST00000507137
gene symbol: SPOCK3
hgvsc: ENST00000507137.1:n.596G>A
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000426716
ensembl transcript: ENST00000510741
gene symbol: SPOCK3
hgvsc: ENST00000510741.1:c.590-37485G>A
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423421
ensembl transcript: ENST00000511531
gene symbol: SPOCK3
hgvsc: ENST00000511531.1:c.674G>A
hgvsp: ENSP00000423421.1:p.Ser225Asn
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 23879
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 955
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 802
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2097
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 554
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4382
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11775
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12734
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1329
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3082
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1511
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31867
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8564
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7204
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3985
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2657
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

DP
type: SiteQuality
SIO_000300: 1.903274e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.811e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 3.997e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000350153
ensembl transcript: ENST00000357545
gene symbol: SPOCK3
hgvsc: ENST00000357545.4:c.647C>A
hgvsp: ENSP00000350153.4:p.Ala216Asp
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422170
ensembl transcript: ENST00000505187
gene symbol: SPOCK3
hgvsc: ENST00000505187.1:c.*406C>A
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425859
ensembl transcript: ENST00000515143
gene symbol: SPOCK3
hgvsc: ENST00000515143.1:c.*163C>A
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23950
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4374
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 232
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 11752
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 554
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 955
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1325
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2094
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12681
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3060
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31968
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2646
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3964
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8517
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7204
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.903315e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.889e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: -7.57e-1

QD
type: SiteQuality
SIO_000300: 1.38e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e0

VQSLOD
type: SiteQuality
SIO_000300: 2.08e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422170
ensembl transcript: ENST00000505187
gene symbol: SPOCK3
hgvsc: ENST00000505187.1:c.*393G>A
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423421
ensembl transcript: ENST00000511531
gene symbol: SPOCK3
hgvsc: ENST00000511531.1:c.643G>A
hgvsp: ENSP00000423421.1:p.Asp215Asn
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424677
ensembl transcript: ENST00000507370
gene symbol: SPOCK3
hgvsc: ENST00000507370.1:c.*257G>A
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 23986
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4367
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 554
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12706
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11736
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 954
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1324
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2087
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7197
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3943
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8505
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3050
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 153
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2636
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32118
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
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: 8636
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.129e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e0

FS
type: SiteQuality
SIO_000300: 1.0909e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.64e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e0

DP
type: SiteQuality
SIO_000300: 1.903144e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.699e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424677
ensembl transcript: ENST00000507370
gene symbol: SPOCK3
hgvsc: ENST00000507370.1:c.*254C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000420920
ensembl transcript: ENST00000506886
gene symbol: SPOCK3
hgvsc: ENST00000506886.1:c.640C>T
hgvsp: ENSP00000420920.1:p.Arg214Trp
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425859
ensembl transcript: ENST00000515143
gene symbol: SPOCK3
hgvsc: ENST00000515143.1:c.*147C>T
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 451
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11745
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 555
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 954
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1328
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 803
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12648
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24008
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2101
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4381
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32109
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3924
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8474
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3025
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7195
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2627
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 9.25e1
variant carriers: 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: 8630
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.96e-1

FS
type: SiteQuality
SIO_000300: 3.087e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.28e-1

QD
type: SiteQuality
SIO_000300: 1.523e1

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

DP
type: SiteQuality
SIO_000300: 1.904036e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000420920
ensembl transcript: ENST00000506886
gene symbol: SPOCK3
hgvsc: ENST00000506886.1:c.634A>G
hgvsp: ENSP00000420920.1:p.Arg212Gly
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423176
ensembl transcript: ENST00000510403
gene symbol: SPOCK3
hgvsc: ENST00000510403.1:c.271A>G
hgvsp: ENSP00000423176.1:p.Arg91Gly
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425712
ensembl transcript: ENST00000511905
gene symbol: SPOCK3
hgvsc: ENST00000511905.1:c.*270A>G
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 556
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 126
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 955
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 11702
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 24049
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4346
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12719
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 804
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 150
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 178
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1320
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2086
bin: 4.25e1
variant carriers: 3

GenotypeDepth
all individuals: 224
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8497
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2630
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32242
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7201
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3926
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3018
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 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: 66658
num of homozygotes: 0

East Asian
type: Population
allele count: 16
allele frequency: 1.85356811862836e-3
allele num: 8632
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

QD
type: SiteQuality
SIO_000300: 1.289e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

FS
type: SiteQuality
SIO_000300: 1.778e0

MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

DP
type: SiteQuality
SIO_000300: 1.903109e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.24e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000196104
ensembl transcript: ENST00000507137
gene symbol: SPOCK3
hgvsc: ENST00000507137.1:n.550G>A
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423176
ensembl transcript: ENST00000510403
gene symbol: SPOCK3
hgvsc: ENST00000510403.1:c.265G>A
hgvsp: ENSP00000423176.1:p.Ala89Thr
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422170
ensembl transcript: ENST00000505187
gene symbol: SPOCK3
hgvsc: ENST00000505187.1:c.*378G>A
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 123
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11707
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4362
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 955
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2090
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 24064
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 803
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12685
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 554
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1322
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 184
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7187
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 32268
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3008
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3898
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2622
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8472
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 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: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.806767929244376e-4
allele num: 10402
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.43e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.032e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.45e-1

FS
type: SiteQuality
SIO_000300: 3.981e0

DP
type: SiteQuality
SIO_000300: 1.90313e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000441396
ensembl transcript: ENST00000535728
gene symbol: SPOCK3
hgvsc: ENST00000535728.1:c.323-37537G>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000445430
ensembl transcript: ENST00000541637
gene symbol: SPOCK3
hgvsc: ENST00000541637.1:c.328G>T
hgvsp: ENSP00000445430.1:p.Glu110Ter
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000196104
ensembl transcript: ENST00000507137
gene symbol: SPOCK3
hgvsc: ENST00000507137.1:n.544G>T
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 554
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12710
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 802
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 164
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 953
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11677
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24080
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 116
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1316
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4344
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2089
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8465
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7182
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3000
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32339
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3901
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2618
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
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: 904
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.754e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

FS
type: SiteQuality
SIO_000300: 9.694000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.21e-1

QD
type: SiteQuality
SIO_000300: 4.39e0

DP
type: SiteQuality
SIO_000300: 1.901994e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000444789
ensembl transcript: ENST00000541354
gene symbol: SPOCK3
hgvsc: ENST00000541354.1:c.239-10C>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000411344
ensembl transcript: ENST00000421836
gene symbol: SPOCK3
hgvsc: ENST00000421836.2:c.446-10C>G
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11448
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2065
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 12082
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4308
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 366
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 953
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1059
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23631
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1313
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 799
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7161
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 8129
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2875
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2559
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31425
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3788
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.906976744186046e-4
allele num: 10320
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.138e1

DP
type: SiteQuality
SIO_000300: 1.882268e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

FS
type: SiteQuality
SIO_000300: 4.423e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425859
ensembl transcript: ENST00000515143
gene symbol: SPOCK3
hgvsc: ENST00000515143.1:c.*106-16G>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000438142
ensembl transcript: ENST00000534949
gene symbol: SPOCK3
hgvsc: ENST00000534949.1:c.311-16G>T
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 779
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11348
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1313
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4293
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1772
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11504
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 953
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2058
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 799
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23113
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30143
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2550
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2836
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7989
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1479
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3759
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7154
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162790697674419e-4
allele num: 8600
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: 11468
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.731413001167769e-5
allele num: 10276
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.154e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.011e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.719e0

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-1

DP
type: SiteQuality
SIO_000300: 1.867635e6

QD
type: SiteQuality
SIO_000300: 1.231e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000426177
ensembl transcript: ENST00000512648
gene symbol: SPOCK3
hgvsc: ENST00000512648.1:c.590-19G>A
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000441396
ensembl transcript: ENST00000535728
gene symbol: SPOCK3
hgvsc: ENST00000535728.1:c.323-37579G>A
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000444789
ensembl transcript: ENST00000541354
gene symbol: SPOCK3
hgvsc: ENST00000541354.1:c.239-19G>A
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 11285
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2082
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11211
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1005
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2054
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 952
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1314
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 450
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22922
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 427
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4274
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29711
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7149
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1383
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 156
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2545
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2822
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3745
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7940
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1479
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.090133982947625e-5
allele num: 16420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: -1.202e0

VQSLOD
type: SiteQuality
SIO_000300: -1.285e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.012e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.79e-1

DP
type: SiteQuality
SIO_000300: 1.860808e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.34e-1

QD
type: SiteQuality
SIO_000300: 1.099e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000426177
ensembl transcript: ENST00000512648
gene symbol: SPOCK3
hgvsc: ENST00000512648.1:c.590-24C>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422170
ensembl transcript: ENST00000505187
gene symbol: SPOCK3
hgvsc: ENST00000505187.1:c.*349-24C>G
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22202
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1672
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4247
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2822
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2046
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10737
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1309
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11064
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 951
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7764
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2530
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2790
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1675
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1220
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28627
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3701
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7140
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1092
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447535e-5
allele num: 66140
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.216e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.32e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 1.456e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.491e0

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

DP
type: SiteQuality
SIO_000300: 1.842975e6

QD
type: SiteQuality
SIO_000300: 1.448e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422170
ensembl transcript: ENST00000505187
gene symbol: SPOCK3
hgvsc: ENST00000505187.1:c.*349-29C>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424677
ensembl transcript: ENST00000507370
gene symbol: SPOCK3
hgvsc: ENST00000507370.1:c.*213-29C>G
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 4226
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3084
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10180
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2039
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 175
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 511
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1309
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10688
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21003
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3513
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 951
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1916
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3660
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7455
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26642
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2707
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2506
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1802
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7134
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1528
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66064
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: 11448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.790483649892304e-5
allele num: 10214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.817992e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.02e1

VQSLOD
type: SiteQuality
SIO_000300: 7.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000420920
ensembl transcript: ENST00000506886
gene symbol: SPOCK3
hgvsc: ENST00000506886.1:c.599-35A>C
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000438142
ensembl transcript: ENST00000534949
gene symbol: SPOCK3
hgvsc: ENST00000534949.1:c.311-35A>C
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423606
ensembl transcript: ENST00000502330
gene symbol: SPOCK3
hgvsc: ENST00000502330.1:c.599-35A>C
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 80
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9825
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2025
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18216
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9385
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7034
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4015
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4147
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1307
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 952
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2588
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6523
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21722
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2745
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3064
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7132
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1541
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3591
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65962
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.100536847242558e-5
allele num: 16392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

QD
type: SiteQuality
SIO_000300: 9.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.768478e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000438142
ensembl transcript: ENST00000534949
gene symbol: SPOCK3
hgvsc: ENST00000534949.1:c.311-36T>C
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000426716
ensembl transcript: ENST00000510741
gene symbol: SPOCK3
hgvsc: ENST00000510741.1:c.590-37596T>C
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000426177
ensembl transcript: ENST00000512648
gene symbol: SPOCK3
hgvsc: ENST00000512648.1:c.590-36T>C
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4140
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 952
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7035
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2027
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4020
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 573
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 554
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9465
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18194
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 175
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 797
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9763
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1307
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2112
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2586
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3057
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2747
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2491
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22129
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7135
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 568
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6524
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3594
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1240
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.064649160046092e-5
allele num: 65956
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
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: 11428
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.767597e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQRankSum
type: SiteQuality
SIO_000300: 5.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

QD
type: SiteQuality
SIO_000300: 1.339e1

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424677
ensembl transcript: ENST00000507370
gene symbol: SPOCK3
hgvsc: ENST00000507370.1:c.*213-42C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000441396
ensembl transcript: ENST00000535728
gene symbol: SPOCK3
hgvsc: ENST00000535728.1:c.323-37602C>T
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 953
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9392
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2020
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 450
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15735
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4098
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4026
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1304
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10194
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 797
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 645
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2923
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4046
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18550
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3144
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2492
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3518
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7129
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6146
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.038313128551029e-5
allele num: 65826
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.785e0

FS
type: SiteQuality
SIO_000300: 2.965e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

QD
type: SiteQuality
SIO_000300: 1.086e1

DP
type: SiteQuality
SIO_000300: 1.735273e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424677
ensembl transcript: ENST00000507370
gene symbol: SPOCK3
hgvsc: ENST00000507370.1:c.*213-45A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422170
ensembl transcript: ENST00000505187
gene symbol: SPOCK3
hgvsc: ENST00000505187.1:c.*349-45A>G
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4082
bin: 3.75e1
variant carriers: 3

GenotypeDepth
all individuals: 9376
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2020
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4015
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 698
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8720
bin: 3.25e1
variant carriers: 5

GenotypeDepth
all individuals: 450
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1303
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12066
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 14237
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 953
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 797
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4400
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2454
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1967
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4205
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2071
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2505
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15791
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7139
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 1504
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6005
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3495
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3246
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2467
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.775008775008775e-5
allele num: 11396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.875567845151097e-5
allele num: 10126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.73647724163094e-4
allele num: 65778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.71e0

DP
type: SiteQuality
SIO_000300: 1.721834e6

VQSLOD
type: SiteQuality
SIO_000300: 3.96e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

FS
type: SiteQuality
SIO_000300: 7.93e-1

QD
type: SiteQuality
SIO_000300: 1.525e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000426716
ensembl transcript: ENST00000510741
gene symbol: SPOCK3
hgvsc: ENST00000510741.1:c.590-37609C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000426318
ensembl transcript: ENST00000512681
gene symbol: SPOCK3
hgvsc: ENST00000512681.1:c.305-49C>T
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 1304
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2016
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8237
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 774
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 797
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13865
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9340
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3972
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12951
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 953
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4057
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7123
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1069
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4209
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2723
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5574
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3289
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2467
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1940
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11717
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3475
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5809
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2448
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4545
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

QD
type: SiteQuality
SIO_000300: 8.02e0

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.953e-1

DP
type: SiteQuality
SIO_000300: 1.710037e6

FS
type: SiteQuality
SIO_000300: 8.423999999999999e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000420928
ensembl transcript: ENST00000507086
gene symbol: SPOCK3
hgvsc: ENST00000507086.1:c.*105+51A>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000444789
ensembl transcript: ENST00000541354
gene symbol: SPOCK3
hgvsc: ENST00000541354.1:c.238+51A>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000426318
ensembl transcript: ENST00000512681
gene symbol: SPOCK3
hgvsc: ENST00000512681.1:c.304+51A>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425859
ensembl transcript: ENST00000515143
gene symbol: SPOCK3
hgvsc: ENST00000515143.1:c.*105+51A>T
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 8483
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 975
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11330
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2306
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 310
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3414
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5275
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1347
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 698
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11759
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 584
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12361
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4418
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4488
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1742
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3662
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1814
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4081
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3001
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4510
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1874
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16148
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5895
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.065416577881952e-4
allele num: 9386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10972
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7774
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.219e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.458881e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.092e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000350153
ensembl transcript: ENST00000357545
gene symbol: SPOCK3
hgvsc: ENST00000357545.4:c.589+49A>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000420920
ensembl transcript: ENST00000506886
gene symbol: SPOCK3
hgvsc: ENST00000506886.1:c.598+49A>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422170
ensembl transcript: ENST00000505187
gene symbol: SPOCK3
hgvsc: ENST00000505187.1:c.*348+49A>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000445430
ensembl transcript: ENST00000541637
gene symbol: SPOCK3
hgvsc: ENST00000541637.1:c.304+49A>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424674
ensembl transcript: ENST00000511226
gene symbol: SPOCK3
hgvsc: ENST00000511226.1:c.*234+49A>T
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 11354
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3414
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 698
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 310
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2305
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 555
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5273
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12782
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1347
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 584
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11326
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8475
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 302
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 975
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4497
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4324
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3653
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1806
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1884
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3073
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16674
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2279
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4510
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4093
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5890
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1358
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.235198964736332e-5
allele num: 61820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.460497e6

VQSLOD
type: SiteQuality
SIO_000300: 5.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.443e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.827e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000420928
ensembl transcript: ENST00000507086
gene symbol: SPOCK3
hgvsc: ENST00000507086.1:c.*105+47C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422170
ensembl transcript: ENST00000505187
gene symbol: SPOCK3
hgvsc: ENST00000505187.1:c.*348+47C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424674
ensembl transcript: ENST00000511226
gene symbol: SPOCK3
hgvsc: ENST00000511226.1:c.*234+47C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000426318
ensembl transcript: ENST00000512681
gene symbol: SPOCK3
hgvsc: ENST00000512681.1:c.304+47C>T
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3396
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13678
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 310
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 698
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2307
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 548
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1347
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8454
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 584
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 976
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11465
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 10331
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5303
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1887
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4095
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3654
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18567
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3223
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2290
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4346
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2078
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3327
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5832
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4507
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.242857606122515e-5
allele num: 61674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7756
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10942
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9370
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.67e1

DP
type: SiteQuality
SIO_000300: 1.465971e6

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.677e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.35e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000438142
ensembl transcript: ENST00000534949
gene symbol: SPOCK3
hgvsc: ENST00000534949.1:c.310+39A>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425502
ensembl transcript: ENST00000511269
gene symbol: SPOCK3
hgvsc: ENST00000511269.1:c.589+39A>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424674
ensembl transcript: ENST00000511226
gene symbol: SPOCK3
hgvsc: ENST00000511226.1:c.*234+39A>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423606
ensembl transcript: ENST00000502330
gene symbol: SPOCK3
hgvsc: ENST00000502330.1:c.598+39A>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000420928
ensembl transcript: ENST00000507086
gene symbol: SPOCK3
hgvsc: ENST00000507086.1:c.*105+39A>T
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 2336
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 584
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 976
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1350
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5539
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4745
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3302
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 7485
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 19171
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12490
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 699
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 310
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 575
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3301
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3489
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1731
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6043
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25617
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3316
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1956
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2076
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4514
bin: 9.75e1
variant carriers: 6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.23998304006784e-4
allele num: 9434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15870
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.819836214740673e-4
allele num: 10990
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7814
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

DP
type: SiteQuality
SIO_000300: 1.513026e6

FS
type: SiteQuality
SIO_000300: 7.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

QD
type: SiteQuality
SIO_000300: 1.288e1

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423421
ensembl transcript: ENST00000511531
gene symbol: SPOCK3
hgvsc: ENST00000511531.1:c.598+31C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000420928
ensembl transcript: ENST00000507086
gene symbol: SPOCK3
hgvsc: ENST00000507086.1:c.*105+31C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422336
ensembl transcript: ENST00000502741
gene symbol: SPOCK3
hgvsc: ENST00000502741.1:c.*105+31C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000445430
ensembl transcript: ENST00000541637
gene symbol: SPOCK3
hgvsc: ENST00000541637.1:c.304+31C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000444789
ensembl transcript: ENST00000541354
gene symbol: SPOCK3
hgvsc: ENST00000541354.1:c.238+31C>T
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3052
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 699
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13661
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1659
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4755
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 288
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23799
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 584
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2352
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5916
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 311
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1359
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 978
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3242
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2206
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32117
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4515
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6405
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.538715410002539e-4
allele num: 7878
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.044862518089724e-5
allele num: 11056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62508
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15920
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.632e0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.570627e6

QD
type: SiteQuality
SIO_000300: 1.028e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425502
ensembl transcript: ENST00000511269
gene symbol: SPOCK3
hgvsc: ENST00000511269.1:c.589+20T>C
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000420920
ensembl transcript: ENST00000506886
gene symbol: SPOCK3
hgvsc: ENST00000506886.1:c.598+20T>C
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423606
ensembl transcript: ENST00000502330
gene symbol: SPOCK3
hgvsc: ENST00000502330.1:c.598+20T>C
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000438142
ensembl transcript: ENST00000534949
gene symbol: SPOCK3
hgvsc: ENST00000534949.1:c.310+20T>C
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423421
ensembl transcript: ENST00000511531
gene symbol: SPOCK3
hgvsc: ENST00000511531.1:c.598+20T>C
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 28913
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 425
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1642
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2403
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1032
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1374
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 309
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6309
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 987
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 698
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14808
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 586
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4523
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1438
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6907
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38773
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2145
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1675
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1887
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.8516232563881e-4
allele num: 16202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.3e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

DP
type: SiteQuality
SIO_000300: 1.649069e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

VQSLOD
type: SiteQuality
SIO_000300: 5.87e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425712
ensembl transcript: ENST00000511905
gene symbol: SPOCK3
hgvsc: ENST00000511905.1:c.*234+16A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000445430
ensembl transcript: ENST00000541637
gene symbol: SPOCK3
hgvsc: ENST00000541637.1:c.304+16A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423421
ensembl transcript: ENST00000511531
gene symbol: SPOCK3
hgvsc: ENST00000511531.1:c.598+16A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425502
ensembl transcript: ENST00000511269
gene symbol: SPOCK3
hgvsc: ENST00000511269.1:c.589+16A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000441396
ensembl transcript: ENST00000535728
gene symbol: SPOCK3
hgvsc: ENST00000535728.1:c.322+16A>G
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6367
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1153
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 990
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1378
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29671
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 585
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15031
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 310
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2410
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39946
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1899
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2143
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1432
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4527
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531440472908818e-5
allele num: 65298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.663523e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

QD
type: SiteQuality
SIO_000300: 1.517e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.55e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425502
ensembl transcript: ENST00000511269
gene symbol: SPOCK3
hgvsc: ENST00000511269.1:c.589+10A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000426318
ensembl transcript: ENST00000512681
gene symbol: SPOCK3
hgvsc: ENST00000512681.1:c.304+10A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000426716
ensembl transcript: ENST00000510741
gene symbol: SPOCK3
hgvsc: ENST00000510741.1:c.589+10A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424674
ensembl transcript: ENST00000511226
gene symbol: SPOCK3
hgvsc: ENST00000511226.1:c.*234+10A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422336
ensembl transcript: ENST00000502741
gene symbol: SPOCK3
hgvsc: ENST00000502741.1:c.*105+10A>G
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 86
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 190
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15221
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 585
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 545
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6464
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2419
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30478
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 989
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 425
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 700
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 309
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 303
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1383
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7102
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41092
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4516
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.167406023815083e-4
allele num: 8566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.294e0

MQRankSum
type: SiteQuality
SIO_000300: -1.421e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.679199e6

QD
type: SiteQuality
SIO_000300: 1.82e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.44e0

VQSLOD
type: SiteQuality
SIO_000300: -1.978e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.163e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000438142
ensembl transcript: ENST00000534949
gene symbol: SPOCK3
hgvsc: ENST00000534949.1:c.281C>T
hgvsp: ENSP00000438142.1:p.Pro94Leu
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424677
ensembl transcript: ENST00000507370
gene symbol: SPOCK3
hgvsc: ENST00000507370.1:c.*183C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000196104
ensembl transcript: ENST00000507137
gene symbol: SPOCK3
hgvsc: ENST00000507137.1:n.491C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423176
ensembl transcript: ENST00000510403
gene symbol: SPOCK3
hgvsc: ENST00000510403.1:c.236-96870C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423421
ensembl transcript: ENST00000511531
gene symbol: SPOCK3
hgvsc: ENST00000511531.1:c.569C>T
hgvsp: ENSP00000423421.1:p.Pro190Leu
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424980
ensembl transcript: ENST00000502821
gene symbol: SPOCK3
hgvsc: ENST00000502821.1:c.*449C>T
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 986
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30814
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 585
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 699
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6556
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15513
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2424
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1374
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4517
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2161
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41855
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7208
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

East Asian
type: Population
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: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.206e0

QD
type: SiteQuality
SIO_000300: 1.159e1

DP
type: SiteQuality
SIO_000300: 1.690291e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.664e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.19e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424980
ensembl transcript: ENST00000502821
gene symbol: SPOCK3
hgvsc: ENST00000502821.1:c.*443A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000350153
ensembl transcript: ENST00000357545
gene symbol: SPOCK3
hgvsc: ENST00000357545.4:c.554A>G
hgvsp: ENSP00000350153.4:p.Asp185Gly
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000196104
ensembl transcript: ENST00000507137
gene symbol: SPOCK3
hgvsc: ENST00000507137.1:n.485A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425859
ensembl transcript: ENST00000515143
gene symbol: SPOCK3
hgvsc: ENST00000515143.1:c.*70A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422336
ensembl transcript: ENST00000502741
gene symbol: SPOCK3
hgvsc: ENST00000502741.1:c.*70A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422170
ensembl transcript: ENST00000505187
gene symbol: SPOCK3
hgvsc: ENST00000505187.1:c.*313A>G
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 986
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30826
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2423
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 585
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6558
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 86
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1375
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15515
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 700
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41875
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7212
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2159
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4519
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 8.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000660145231951e-5
allele num: 66652
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.257e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 1.690672e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.444e0

MQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425859
ensembl transcript: ENST00000515143
gene symbol: SPOCK3
hgvsc: ENST00000515143.1:c.*68A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000349677
ensembl transcript: ENST00000357154
gene symbol: SPOCK3
hgvsc: ENST00000357154.3:c.561A>G
hgvsp: ENST00000357154.3:c.561A>G(p.%3D)
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000420928
ensembl transcript: ENST00000507086
gene symbol: SPOCK3
hgvsc: ENST00000507086.1:c.*68A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422336
ensembl transcript: ENST00000502741
gene symbol: SPOCK3
hgvsc: ENST00000502741.1:c.*68A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425502
ensembl transcript: ENST00000511269
gene symbol: SPOCK3
hgvsc: ENST00000511269.1:c.552A>G
hgvsp: ENST00000511269.1:c.552A>G(p.%3D)
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423606
ensembl transcript: ENST00000502330
gene symbol: SPOCK3
hgvsc: ENST00000502330.1:c.561A>G
hgvsp: ENST00000502330.1:c.561A>G(p.%3D)
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2424
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6562
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 986
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 700
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 303
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1375
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 585
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15519
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30824
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41875
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2158
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7209
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4518
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 819
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1936
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.53e-1

DP
type: SiteQuality
SIO_000300: 1.690796e6

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

QD
type: SiteQuality
SIO_000300: 1.19e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.502e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000349677
ensembl transcript: ENST00000357154
gene symbol: SPOCK3
hgvsc: ENST00000357154.3:c.557C>A
hgvsp: ENSP00000349677.3:p.Pro186His
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000411344
ensembl transcript: ENST00000421836
gene symbol: SPOCK3
hgvsc: ENST00000421836.2:c.404C>A
hgvsp: ENSP00000411344.2:p.Pro135His
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423176
ensembl transcript: ENST00000510403
gene symbol: SPOCK3
hgvsc: ENST00000510403.1:c.236-96882C>A
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422336
ensembl transcript: ENST00000502741
gene symbol: SPOCK3
hgvsc: ENST00000502741.1:c.*64C>A
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000420928
ensembl transcript: ENST00000507086
gene symbol: SPOCK3
hgvsc: ENST00000507086.1:c.*64C>A
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000196104
ensembl transcript: ENST00000507137
gene symbol: SPOCK3
hgvsc: ENST00000507137.1:n.479C>A
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 586
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30825
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2424
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6562
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 986
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1376
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15527
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 699
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4519
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 590
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1939
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41885
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2156
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7207
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

East Asian
type: Population
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: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.690961e6

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 5.883e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.241e0

QD
type: SiteQuality
SIO_000300: 1.49e1

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000349677
ensembl transcript: ENST00000357154
gene symbol: SPOCK3
hgvsc: ENST00000357154.3:c.545A>T
hgvsp: ENSP00000349677.3:p.His182Leu
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000196104
ensembl transcript: ENST00000507137
gene symbol: SPOCK3
hgvsc: ENST00000507137.1:n.467A>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422170
ensembl transcript: ENST00000505187
gene symbol: SPOCK3
hgvsc: ENST00000505187.1:c.*295A>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423176
ensembl transcript: ENST00000510403
gene symbol: SPOCK3
hgvsc: ENST00000510403.1:c.236-96894A>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000420920
ensembl transcript: ENST00000506886
gene symbol: SPOCK3
hgvsc: ENST00000506886.1:c.545A>T
hgvsp: ENSP00000420920.1:p.His182Leu
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424980
ensembl transcript: ENST00000502821
gene symbol: SPOCK3
hgvsc: ENST00000502821.1:c.*425A>T
variant of: http://identifiers.org/hgnc/13565

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

GenotypeDepth
all individuals: 311
bin: 9.75e1
variant carriers: 9

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2424
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15529
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 586
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1374
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6563
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 699
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 309
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 30819
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 985
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 589
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4528
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7201
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41904
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2157
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.735809755250825e-4
allele num: 11522
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.057895749182535e-3
allele num: 10398
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

DP
type: SiteQuality
SIO_000300: 1.692253e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 5.36e0

QD
type: SiteQuality
SIO_000300: 1.19e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000441396
ensembl transcript: ENST00000535728
gene symbol: SPOCK3
hgvsc: ENST00000535728.1:c.268C>T
hgvsp: ENSP00000441396.1:p.His90Tyr
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422336
ensembl transcript: ENST00000502741
gene symbol: SPOCK3
hgvsc: ENST00000502741.1:c.*51C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000438142
ensembl transcript: ENST00000534949
gene symbol: SPOCK3
hgvsc: ENST00000534949.1:c.256C>T
hgvsp: ENSP00000438142.1:p.His86Tyr
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000420928
ensembl transcript: ENST00000507086
gene symbol: SPOCK3
hgvsc: ENST00000507086.1:c.*51C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425712
ensembl transcript: ENST00000511905
gene symbol: SPOCK3
hgvsc: ENST00000511905.1:c.*180C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000196104
ensembl transcript: ENST00000507137
gene symbol: SPOCK3
hgvsc: ENST00000507137.1:n.466C>T
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 586
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6570
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 305
bin: 9.75e1
variant carriers: 3

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

GenotypeDepth
all individuals: 1375
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 985
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30813
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 699
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2425
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15534
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2159
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 588
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1935
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 819
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7201
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41903
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4518
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.471418653089562e-4
allele num: 8642
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: 66668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
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: 16504
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: 1.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.83e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.438e0

VQSLOD
type: SiteQuality
SIO_000300: -1.039e0

FS
type: SiteQuality
SIO_000300: 8.074999999999999e0

QD
type: SiteQuality
SIO_000300: 1.162e1

MQ
type: SiteQuality
SIO_000300: 5.907e1

DP
type: SiteQuality
SIO_000300: 1.691455e6

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425712
ensembl transcript: ENST00000511905
gene symbol: SPOCK3
hgvsc: ENST00000511905.1:c.*161C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424674
ensembl transcript: ENST00000511226
gene symbol: SPOCK3
hgvsc: ENST00000511226.1:c.*161C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424677
ensembl transcript: ENST00000507370
gene symbol: SPOCK3
hgvsc: ENST00000507370.1:c.*139C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000438142
ensembl transcript: ENST00000534949
gene symbol: SPOCK3
hgvsc: ENST00000534949.1:c.237C>T
hgvsp: ENST00000534949.1:c.237C>T(p.%3D)
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423176
ensembl transcript: ENST00000510403
gene symbol: SPOCK3
hgvsc: ENST00000510403.1:c.236-96914C>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422336
ensembl transcript: ENST00000502741
gene symbol: SPOCK3
hgvsc: ENST00000502741.1:c.*32C>T
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 985
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15538
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2425
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30741
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 699
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6569
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1375
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 587
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2158
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4517
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1934
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41827
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 819
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7212
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

East Asian
type: Population
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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

DP
type: SiteQuality
SIO_000300: 1.690553e6

FS
type: SiteQuality
SIO_000300: 6.266e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e-1

QD
type: SiteQuality
SIO_000300: 1.361e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.954e0

VQSLOD
type: SiteQuality
SIO_000300: -8.126e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 5.902e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-2

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000411344
ensembl transcript: ENST00000421836
gene symbol: SPOCK3
hgvsc: ENST00000421836.2:c.369G>T
hgvsp: ENSP00000411344.2:p.Gln123His
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000426177
ensembl transcript: ENST00000512648
gene symbol: SPOCK3
hgvsc: ENST00000512648.1:c.513G>T
hgvsp: ENSP00000426177.1:p.Gln171His
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425859
ensembl transcript: ENST00000515143
gene symbol: SPOCK3
hgvsc: ENST00000515143.1:c.*29G>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000420920
ensembl transcript: ENST00000506886
gene symbol: SPOCK3
hgvsc: ENST00000506886.1:c.522G>T
hgvsp: ENSP00000420920.1:p.Gln174His
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423606
ensembl transcript: ENST00000502330
gene symbol: SPOCK3
hgvsc: ENST00000502330.1:c.522G>T
hgvsp: ENSP00000423606.1:p.Gln174His
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423176
ensembl transcript: ENST00000510403
gene symbol: SPOCK3
hgvsc: ENST00000510403.1:c.236-96917G>T
variant of: http://identifiers.org/hgnc/13565

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

GenotypeDepth
all individuals: 2426
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 985
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30721
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6566
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15547
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1375
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 699
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 587
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 303
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 86
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41802
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7209
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4518
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 819
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2160
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
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: 906
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.634e0

VQSLOD
type: SiteQuality
SIO_000300: -4.91e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.445e-1

DP
type: SiteQuality
SIO_000300: 1.690546e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.013e0

MQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

QD
type: SiteQuality
SIO_000300: 1.339e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.103e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000350153
ensembl transcript: ENST00000357545
gene symbol: SPOCK3
hgvsc: ENST00000357545.4:c.513G>A
hgvsp: ENST00000357545.4:c.513G>A(p.%3D)
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424674
ensembl transcript: ENST00000511226
gene symbol: SPOCK3
hgvsc: ENST00000511226.1:c.*158G>A
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423606
ensembl transcript: ENST00000502330
gene symbol: SPOCK3
hgvsc: ENST00000502330.1:c.522G>A
hgvsp: ENST00000502330.1:c.522G>A(p.%3D)
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423176
ensembl transcript: ENST00000510403
gene symbol: SPOCK3
hgvsc: ENST00000510403.1:c.236-96917G>A
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000196104
ensembl transcript: ENST00000507137
gene symbol: SPOCK3
hgvsc: ENST00000507137.1:n.444G>A
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424980
ensembl transcript: ENST00000502821
gene symbol: SPOCK3
hgvsc: ENST00000502821.1:c.*402G>A
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 30721
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 587
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 985
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 699
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15547
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2426
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6566
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 308
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1375
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 303
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2160
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7209
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41802
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4518
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 819
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.634e0

VQSLOD
type: SiteQuality
SIO_000300: -4.91e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.339e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.013e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.445e-1

DP
type: SiteQuality
SIO_000300: 1.690546e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.103e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000441396
ensembl transcript: ENST00000535728
gene symbol: SPOCK3
hgvsc: ENST00000535728.1:c.245A>C
hgvsp: ENSP00000441396.1:p.Gln82Pro
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423176
ensembl transcript: ENST00000510403
gene symbol: SPOCK3
hgvsc: ENST00000510403.1:c.236-96918A>C
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000196104
ensembl transcript: ENST00000507137
gene symbol: SPOCK3
hgvsc: ENST00000507137.1:n.443A>C
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422336
ensembl transcript: ENST00000502741
gene symbol: SPOCK3
hgvsc: ENST00000502741.1:c.*28A>C
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000438142
ensembl transcript: ENST00000534949
gene symbol: SPOCK3
hgvsc: ENST00000534949.1:c.233A>C
hgvsp: ENSP00000438142.1:p.Gln78Pro
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422170
ensembl transcript: ENST00000505187
gene symbol: SPOCK3
hgvsc: ENST00000505187.1:c.*271A>C
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 985
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15548
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 303
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 86
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1375
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2426
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30718
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6564
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 699
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 587
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2159
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41800
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4517
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 818
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7212
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
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: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.690442e6

QD
type: SiteQuality
SIO_000300: 1.344e1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.58e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 7.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000441396
ensembl transcript: ENST00000535728
gene symbol: SPOCK3
hgvsc: ENST00000535728.1:c.242A>G
hgvsp: ENSP00000441396.1:p.Lys81Arg
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422336
ensembl transcript: ENST00000502741
gene symbol: SPOCK3
hgvsc: ENST00000502741.1:c.*25A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000350153
ensembl transcript: ENST00000357545
gene symbol: SPOCK3
hgvsc: ENST00000357545.4:c.509A>G
hgvsp: ENSP00000350153.4:p.Lys170Arg
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422170
ensembl transcript: ENST00000505187
gene symbol: SPOCK3
hgvsc: ENST00000505187.1:c.*268A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424980
ensembl transcript: ENST00000502821
gene symbol: SPOCK3
hgvsc: ENST00000502821.1:c.*398A>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000411344
ensembl transcript: ENST00000421836
gene symbol: SPOCK3
hgvsc: ENST00000421836.2:c.365A>G
hgvsp: ENSP00000411344.2:p.Lys122Arg
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15540
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 699
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 424
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 30714
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 985
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 587
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2426
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1375
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6565
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4518
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2158
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7210
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41798
bin: 6.25e1
variant carriers: 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: 6606
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00048007681229e-5
allele num: 66656
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.690299e6

QD
type: SiteQuality
SIO_000300: 1.122e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.831e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.02e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e0

MQRankSum
type: SiteQuality
SIO_000300: 6.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e0

FS
type: SiteQuality
SIO_000300: 1.474e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425712
ensembl transcript: ENST00000511905
gene symbol: SPOCK3
hgvsc: ENST00000511905.1:c.*146C>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424677
ensembl transcript: ENST00000507370
gene symbol: SPOCK3
hgvsc: ENST00000507370.1:c.*124C>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000196104
ensembl transcript: ENST00000507137
gene symbol: SPOCK3
hgvsc: ENST00000507137.1:n.432C>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423176
ensembl transcript: ENST00000510403
gene symbol: SPOCK3
hgvsc: ENST00000510403.1:c.236-96929C>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422336
ensembl transcript: ENST00000502741
gene symbol: SPOCK3
hgvsc: ENST00000502741.1:c.*17C>G
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000441396
ensembl transcript: ENST00000535728
gene symbol: SPOCK3
hgvsc: ENST00000535728.1:c.234C>G
hgvsp: ENST00000535728.1:c.234C>G(p.%3D)
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1373
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 985
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30638
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 588
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 86
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 698
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 9.75e1
variant carriers: 6

GenotypeDepth
all individuals: 15540
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6567
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 310
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 2423
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2158
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7208
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4523
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 41709
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001200480192077e-5
allele num: 66640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 8
allele frequency: 1.211020284589767e-3
allele num: 6606
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.404e1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.13e0

DP
type: SiteQuality
SIO_000300: 1.690398e6

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000420920
ensembl transcript: ENST00000506886
gene symbol: SPOCK3
hgvsc: ENST00000506886.1:c.484-6A>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000426318
ensembl transcript: ENST00000512681
gene symbol: SPOCK3
hgvsc: ENST00000512681.1:c.190-6A>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423176
ensembl transcript: ENST00000510403
gene symbol: SPOCK3
hgvsc: ENST00000510403.1:c.236-96961A>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423606
ensembl transcript: ENST00000502330
gene symbol: SPOCK3
hgvsc: ENST00000502330.1:c.484-6A>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423421
ensembl transcript: ENST00000511531
gene symbol: SPOCK3
hgvsc: ENST00000511531.1:c.484-6A>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl transcript: ENST00000507137
gene symbol: SPOCK3
hgvsc: ENST00000507137.1:n.406-6A>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000445430
ensembl transcript: ENST00000541637
gene symbol: SPOCK3
hgvsc: ENST00000541637.1:c.190-6A>T
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000444789
ensembl transcript: ENST00000541354
gene symbol: SPOCK3
hgvsc: ENST00000541354.1:c.124-6A>T
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 206
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 29418
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6535
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 588
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 426
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15376
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 703
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 66
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 833
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 412
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2431
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1389
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 987
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 348
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7096
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1917
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 587
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4515
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40221
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 9.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.044122091266244e-5
allele num: 66180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.675606e6

VQSLOD
type: SiteQuality
SIO_000300: -4.424e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

FS
type: SiteQuality
SIO_000300: 3.217e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 7.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.562e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.731e0

MQRankSum
type: SiteQuality
SIO_000300: 4.87e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000445430
ensembl transcript: ENST00000541637
gene symbol: SPOCK3
hgvsc: ENST00000541637.1:c.190-12C>A
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000349677
ensembl transcript: ENST00000357154
gene symbol: SPOCK3
hgvsc: ENST00000357154.3:c.484-12C>A
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000438142
ensembl transcript: ENST00000534949
gene symbol: SPOCK3
hgvsc: ENST00000534949.1:c.196-12C>A
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423606
ensembl transcript: ENST00000502330
gene symbol: SPOCK3
hgvsc: ENST00000502330.1:c.484-12C>A
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000426318
ensembl transcript: ENST00000512681
gene symbol: SPOCK3
hgvsc: ENST00000512681.1:c.190-12C>A
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423176
ensembl transcript: ENST00000510403
gene symbol: SPOCK3
hgvsc: ENST00000510403.1:c.236-96967C>A
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 6606
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 205
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28236
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1422
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2457
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 625
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1377
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 309
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 986
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15522
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 469
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 593
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 424
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6910
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39219
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1891
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4515
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 584
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517957436473481e-5
allele num: 65878
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.904e0

QD
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 1.931e0

DP
type: SiteQuality
SIO_000300: 1.667329e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.963e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15946
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

DP
type: SiteQuality
SIO_000300: 1.726103e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

QD
type: SiteQuality
SIO_000300: 4.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

FS
type: SiteQuality
SIO_000300: 1.046e0

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000426318
ensembl transcript: ENST00000512681
gene symbol: SPOCK3
hgvsc: ENST00000512681.1:c.190-15dupT
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424677
ensembl transcript: ENST00000507370
gene symbol: SPOCK3
hgvsc: ENST00000507370.1:c.*98-15dupT
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000349677
ensembl transcript: ENST00000357154
gene symbol: SPOCK3
hgvsc: ENST00000357154.3:c.484-15dupT
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000445430
ensembl transcript: ENST00000541637
gene symbol: SPOCK3
hgvsc: ENST00000541637.1:c.190-15dupT
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423606
ensembl transcript: ENST00000502330
gene symbol: SPOCK3
hgvsc: ENST00000502330.1:c.484-15dupT
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000423367
ensembl transcript: ENST00000509854
gene symbol: SPOCK3
hgvsc: ENST00000509854.1:c.475-15dupT
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 125
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 747
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 146
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2058
bin: 4.25e1
variant carriers: 5

GenotypeDepth
all individuals: 995
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 703
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25306
bin: 2.25e1
variant carriers: 5

GenotypeDepth
all individuals: 3059
bin: 3.75e1
variant carriers: 12

GenotypeDepth
all individuals: 1712
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1428
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 15210
bin: 2.75e1
variant carriers: 9

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

GenotypeDepth
all individuals: 509
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6996
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 559
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 683
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36030
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 631
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 711
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 7.5e0
variant carriers: 4

GenotypeQuality
all individuals: 266
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 575
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 6334
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4036
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 1906
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2265
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 631
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 25
allele frequency: 2.253876667868734e-3
allele num: 11092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.271165182490907e-5
allele num: 15946
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.199616122840691e-4
allele num: 8336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.087294190742467e-4
allele num: 64380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.83e-1

DP
type: SiteQuality
SIO_000300: 1.726103e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

FS
type: SiteQuality
SIO_000300: 1.046e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

QD
type: SiteQuality
SIO_000300: 4.35e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422336
ensembl transcript: ENST00000502741
gene symbol: SPOCK3
hgvsc: ENST00000502741.1:c.360-15delT
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424980
ensembl transcript: ENST00000502821
gene symbol: SPOCK3
hgvsc: ENST00000502821.1:c.*364-15delT
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424674
ensembl transcript: ENST00000511226
gene symbol: SPOCK3
hgvsc: ENST00000511226.1:c.*120-15delT
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000425570
ensembl transcript: ENST00000504953
gene symbol: SPOCK3
hgvsc: ENST00000504953.1:c.475-15delT
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000445430
ensembl transcript: ENST00000541637
gene symbol: SPOCK3
hgvsc: ENST00000541637.1:c.190-15delT
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 747
bin: 5.75e1
variant carriers: 5

GenotypeDepth
all individuals: 3059
bin: 3.75e1
variant carriers: 6

GenotypeDepth
all individuals: 703
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 7.75e1
variant carriers: 6

GenotypeDepth
all individuals: 25306
bin: 2.25e1
variant carriers: 6

GenotypeDepth
all individuals: 1712
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1428
bin: 4.75e1
variant carriers: 6

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.25e1
variant carriers: 7

GenotypeDepth
all individuals: 995
bin: 5.25e1
variant carriers: 5

GenotypeDepth
all individuals: 15210
bin: 2.75e1
variant carriers: 7

GenotypeDepth
all individuals: 509
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 6996
bin: 3.25e1
variant carriers: 9

GenotypeDepth
all individuals: 352
bin: 6.75e1
variant carriers: 3

GenotypeDepth
all individuals: 226
bin: 7.25e1
variant carriers: 3

GenotypeDepth
all individuals: 559
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 125
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2058
bin: 4.25e1
variant carriers: 7

GenotypeDepth
all individuals: 59
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 334
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 631
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 575
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1906
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 266
bin: 1.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1234
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 370
bin: 7.5e0
variant carriers: 4

GenotypeQuality
all individuals: 227
bin: 1.25e1
variant carriers: 7

GenotypeQuality
all individuals: 6334
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 697
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 631
bin: 2.5e0
variant carriers: 9

GenotypeQuality
all individuals: 2265
bin: 2.25e1
variant carriers: 6

GenotypeQuality
all individuals: 683
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 36030
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 495
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 610
bin: 3.75e1
variant carriers: 7

GenotypeQuality
all individuals: 711
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 684
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1686
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4036
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 627
bin: 4.75e1
variant carriers: 3

African
type: Population
allele count: 9
allele frequency: 9.00720576461169e-4
allele num: 9992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 42
allele frequency: 6.5237651444548e-4
allele num: 64380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.015506671474937e-5
allele num: 11092
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.271165182490907e-5
allele num: 15946
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.197696737044146e-4
allele num: 8336
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-2

FS
type: SiteQuality
SIO_000300: 1.046e0

QD
type: SiteQuality
SIO_000300: 4.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.726103e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000424674
ensembl transcript: ENST00000511226
gene symbol: SPOCK3
hgvsc: ENST00000511226.1:c.*120-15T>C
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000422336
ensembl transcript: ENST00000502741
gene symbol: SPOCK3
hgvsc: ENST00000502741.1:c.360-15T>C
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000426318
ensembl transcript: ENST00000512681
gene symbol: SPOCK3
hgvsc: ENST00000512681.1:c.190-15T>C
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000444789
ensembl transcript: ENST00000541354
gene symbol: SPOCK3
hgvsc: ENST00000541354.1:c.124-15T>C
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000438142
ensembl transcript: ENST00000534949
gene symbol: SPOCK3
hgvsc: ENST00000534949.1:c.196-15T>C
variant of: http://identifiers.org/hgnc/13565

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000196104
ensembl protein: ENSP00000350153
ensembl transcript: ENST00000357545
gene symbol: SPOCK3
hgvsc: ENST00000357545.4:c.475-15T>C
variant of: http://identifiers.org/hgnc/13565

GenotypeDepth
all individuals: 2973
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 713
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15553
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1269
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1755
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 670
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 947
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2055
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25072
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7165
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 467
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 326
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1906
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6424
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2332
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36515
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3964
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15978
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.104336758451557e-5
allele num: 64426
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.708e1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.68e-1

DP
type: SiteQuality
SIO_000300: 1.711598e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1