9-134014736-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014736
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014736
    reference: chr 9
allele count: 3
allele frequency: 2.47496163809461e-5
allele num: 121214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2329A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126883
  ensembl transcript: ENST00000530843
  gene symbol: NUP214
  hgvsc: ENST00000530843.1:n.189T>A
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1074T>A
  hgvsp: ENSP00000396576.2:p.Asp358Glu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1074T>A
  hgvsp: ENSP00000352400.5:p.Asp358Glu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.88T>A
  hgvsp: ENSP00000434223.1:p.Asp30Glu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2527A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1074T>A
  hgvsp: ENSP00000405014.1:p.Asp358Glu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2527A>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6134A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2329A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2329A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2329A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6134A>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp358Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

9-134014739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014739
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014739
    reference: chr 9
allele count: 2
allele frequency: 1.649647800194658e-5
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1077C>T
  hgvsp: ENST00000359428.5:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2326G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6137G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2326G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2530G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1077C>T
  hgvsp: ENST00000411637.2:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.91C>T
  hgvsp: ENST00000530863.1:c.91C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2530G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2326G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1077C>T
  hgvsp: ENST00000451030.1:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6137G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2326G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp359Asp
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

9-134014760-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014760
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014760
    reference: chr 9
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2305G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.112C>T
  hgvsp: ENST00000530863.1:c.112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2551G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1098C>T
  hgvsp: ENST00000411637.2:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2305G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2551G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2305G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6158G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1098C>T
  hgvsp: ENST00000359428.5:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2305G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6158G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1098C>T
  hgvsp: ENST00000451030.1:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val366Val
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

9-134014761-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014761
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014761
    reference: chr 9
allele count: 14
allele frequency: 1.153668666359022e-4
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2552C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.113G>A
  hgvsp: ENSP00000434223.1:p.Val39Ile
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6159C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1099G>A
  hgvsp: ENSP00000396576.2:p.Val367Ile
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1099G>A
  hgvsp: ENSP00000405014.1:p.Val367Ile
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6159C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2552C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1099G>A
  hgvsp: ENSP00000352400.5:p.Val367Ile
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2304C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2304C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2304C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2304C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val367Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

9-134014764-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014764
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014764
    reference: chr 9
allele count: 4
allele frequency: 3.295978905735003e-5
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1102G>A
  hgvsp: ENSP00000405014.1:p.Asp368Asn
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1102G>A
  hgvsp: ENSP00000352400.5:p.Asp368Asn
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.116G>A
  hgvsp: ENSP00000434223.1:p.Asp40Asn
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6162C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2301C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2301C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2301C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2555C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6162C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1102G>A
  hgvsp: ENSP00000396576.2:p.Asp368Asn
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2301C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2555C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Asp368Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/9-134014766-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014766
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014766
    reference: chr 9
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6164G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2299G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2557G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1104C>A
  hgvsp: ENSP00000352400.5:p.Asp368Glu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6164G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1104C>A
  hgvsp: ENSP00000405014.1:p.Asp368Glu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2299G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2299G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2299G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.118C>A
  hgvsp: ENSP00000434223.1:p.Asp40Glu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1104C>A
  hgvsp: ENSP00000396576.2:p.Asp368Glu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2557G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp368Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-134014771-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014771
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014771
    reference: chr 9
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1109C>G
  hgvsp: ENSP00000352400.5:p.Thr370Arg
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.123C>G
  hgvsp: ENSP00000434223.1:p.Thr42Arg
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6169G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6169G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1109C>G
  hgvsp: ENSP00000396576.2:p.Thr370Arg
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2294G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2562G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2294G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1109C>G
  hgvsp: ENSP00000405014.1:p.Thr370Arg
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2294G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2562G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2294G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr370Arg
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/9-134014771-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014771
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014770
    reference: chr 9
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1112delA
  hgvsp: ENSP00000396576.2:p.Asn371ThrfsTer33
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.126delA
  hgvsp: ENSP00000434223.1:p.Asn43ThrfsTer33
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6170delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2293delT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1112delA
  hgvsp: ENSP00000352400.5:p.Asn371ThrfsTer33
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2293delT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1112delA
  hgvsp: ENSP00000405014.1:p.Asn371ThrfsTer33
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2563delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2563delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2293delT
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6170delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2293delT
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn371ThrfsTer33
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: CA
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

9-134014772-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014772
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014772
    reference: chr 9
allele count: 9
allele frequency: 7.415585913682581e-5
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2293T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2563T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1110A>G
  hgvsp: ENST00000359428.5:c.1110A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2293T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1110A>G
  hgvsp: ENST00000451030.1:c.1110A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2293T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.124A>G
  hgvsp: ENST00000530863.1:c.124A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1110A>G
  hgvsp: ENST00000411637.2:c.1110A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6170T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6170T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2293T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2563T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Thr370Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

9-134014773-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014773
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014773
    reference: chr 9
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2292T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6171T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.125A>G
  hgvsp: ENSP00000434223.1:p.Asn43Asp
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1111A>G
  hgvsp: ENSP00000396576.2:p.Asn371Asp
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1111A>G
  hgvsp: ENSP00000405014.1:p.Asn371Asp
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2292T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1111A>G
  hgvsp: ENSP00000352400.5:p.Asn371Asp
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2292T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2564T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2292T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2564T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6171T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn371Asp
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

9-134014777-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014777
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014777
    reference: chr 9
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1115A>T
  hgvsp: ENSP00000405014.1:p.Gln372Leu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1115A>T
  hgvsp: ENSP00000396576.2:p.Gln372Leu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1115A>T
  hgvsp: ENSP00000352400.5:p.Gln372Leu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2568T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2288T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2568T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.129A>T
  hgvsp: ENSP00000434223.1:p.Gln44Leu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6175T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2288T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6175T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2288T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2288T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln372Leu
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: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/9-134014784-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014784
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014784
    reference: chr 9
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2281T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2575T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2281T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.136A>C
  hgvsp: ENSP00000434223.1:p.Glu46Asp
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2575T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6182T>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6182T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2281T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1122A>C
  hgvsp: ENSP00000405014.1:p.Glu374Asp
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2281T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1122A>C
  hgvsp: ENSP00000352400.5:p.Glu374Asp
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1122A>C
  hgvsp: ENSP00000396576.2:p.Glu374Asp
  variant of: http://identifiers.org/hgnc/8064
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu374Asp
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-134014791-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014791
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014791
    reference: chr 9
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6189T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2274T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2582T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1129A>G
  hgvsp: ENSP00000352400.5:p.Ile377Val
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2274T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1129A>G
  hgvsp: ENSP00000405014.1:p.Ile377Val
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2274T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1129A>G
  hgvsp: ENSP00000396576.2:p.Ile377Val
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.143A>G
  hgvsp: ENSP00000434223.1:p.Ile49Val
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2582T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2274T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6189T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile377Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

9-134014801-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014801
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014801
    reference: chr 9
allele count: 8
allele frequency: 6.591197455797781e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2264C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6199C>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1132+7G>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2592C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2264C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2264C>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1132+7G>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6199C>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1132+7G>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2264C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2592C>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.146+7G>T
  variant of: http://identifiers.org/hgnc/8064
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1132+7G>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

9-134014809-GTAGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014809
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014805
    reference: chr 9
allele count: 6
allele frequency: 4.943805411818991e-5
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2252_428+2255delACTA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2604_531-2601delACTA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1132+20_1132+23delTAGT
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2252_619+2255delACTA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2252_619+2255delACTA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1132+20_1132+23delTAGT
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1132+20_1132+23delTAGT
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2604_531-2601delACTA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.146+20_146+23delTAGT
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2252_619+2255delACTA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6211_531-6208delACTA
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6211_724-6208delACTA
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: GTAGT
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

9-134014812-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014812
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014812
    reference: chr 9
allele count: 66
allele frequency: 5.438454819624582e-4
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6210C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2603C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1132+18G>A
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2253C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1132+18G>A
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1132+18G>A
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2253C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.146+18G>A
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2603C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2253C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6210C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2253C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 44043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 2
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

9-134014813-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014813
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014813
    reference: chr 9
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2252A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1132+19T>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2604A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1132+19T>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2252A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2252A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2604A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1132+19T>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.146+19T>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6211A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6211A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2252A>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

9-134014817-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014817
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014817
    reference: chr 9
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.146+23T>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2608A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2248A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1132+23T>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2248A>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6215A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1132+23T>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2248A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2608A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1132+23T>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2248A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6215A>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

9-134014819-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014819
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014819
    reference: chr 9
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2246G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.146+25C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2246G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1132+25C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2610G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2246G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2610G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1132+25C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6217G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1132+25C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2246G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6217G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

9-134014829-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014829
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014828
    reference: chr 9
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2235delA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1132+37delT
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6228delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1132+37delT
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6228delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1132+37delT
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2235delA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2621delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.146+37delT
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2235delA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2621delA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2235delA
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: CT
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

9-134014832-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014832
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014832
    reference: chr 9
allele count: 2
allele frequency: 1.648152421135907e-5
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2233G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.146+38C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2233G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2623G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1132+38C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1132+38C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1132+38C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2233G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2233G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6230G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2623G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6230G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9451
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ

9-134014833-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014833
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014833
    reference: chr 9
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1132+39T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2232A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.146+39T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2232A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2232A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1132+39T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1132+39T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2624A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2232A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2624A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6231A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6231A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

9-134014837-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014837
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014837
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2228A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.146+43T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2628A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2228A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1132+43T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6235A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1132+43T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1132+43T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6235A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2228A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2228A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2628A>G
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43699
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

9-134014842-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134014842
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134014842
    reference: chr 9
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+2223T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+2223T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+2223T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-2633T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1132+48A>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1132+48A>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-2633T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1132+48A>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-6240T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-6240T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+2223T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.146+48A>T
  variant of: http://identifiers.org/hgnc/8064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

9-134015890-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015890
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015890
    reference: chr 9
allele count: 2
allele frequency: 1.776482919116733e-5
allele num: 112582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1133-46C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7288G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1133-46C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1175G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7288G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1175G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1133-46C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3681G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3681G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1175G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.147-46C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1175G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

9-134015893-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015893
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015893
    reference: chr 9
allele count: 1
allele frequency: 8.868707651920962e-6
allele num: 112756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1133-43T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1172A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1133-43T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3684A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1172A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7291A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3684A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.147-43T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1133-43T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1172A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1172A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7291A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

9-134015896-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015896
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015896
    reference: chr 9
allele count: 2
allele frequency: 1.769942830846564e-5
allele num: 112998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.147-40A>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7294T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1169T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1133-40A>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1169T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1133-40A>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1133-40A>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3687T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1169T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7294T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1169T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3687T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

9-134015899-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015899
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015899
    reference: chr 9
allele count: 30485
allele frequency: 2.646405194715002e-1
allele num: 115194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1166G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1133-37C>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1166G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1166G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1166G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7297G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.147-37C>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1133-37C>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3690G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1133-37C>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3690G>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7297G>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 1.75e1
  variant carriers: 1138
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 5.25e1
  variant carriers: 2717
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 4.75e1
  variant carriers: 2859
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.75e1
  variant carriers: 788
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 7.5e0
  variant carriers: 579
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 1.25e1
  variant carriers: 1349
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.25e1
  variant carriers: 305
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 8.75e1
  variant carriers: 393
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 2.75e1
  variant carriers: 836
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 9.75e1
  variant carriers: 1662
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 3.75e1
  variant carriers: 1919
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 2.25e1
  variant carriers: 763
genotype depth: GenotypeDepth
  all individuals: 8274
  bin: 3.25e1
  variant carriers: 1241
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 6.25e1
  variant carriers: 2027
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 7.25e1
  variant carriers: 1104
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.25e1
  variant carriers: 540
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 4.25e1
  variant carriers: 2542
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 6.75e1
  variant carriers: 1592
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 5.75e1
  variant carriers: 2507
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.25e1
  variant carriers: 100
num of homozygotes: 4234
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

9-134015905-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015905
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015905
    reference: chr 9
allele count: 12
allele frequency: 1.032453453556802e-4
allele num: 116228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1160C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.147-31G>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3696C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1160C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1133-31G>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3696C>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7303C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7303C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1133-31G>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1160C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1133-31G>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1160C>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5188
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9935
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7766
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

9-134015906-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015906
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015906
    reference: chr 9
allele count: 1
allele frequency: 8.596234849136078e-6
allele num: 116330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.147-30T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1133-30T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1133-30T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3697A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1159A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7304A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1159A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1159A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3697A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1133-30T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1159A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7304A>G
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

9-134015913-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015913
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015913
    reference: chr 9
allele count: 1
allele frequency: 8.547885253188362e-6
allele num: 116988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1152T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3704T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1133-23A>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.147-23A>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1133-23A>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1152T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1152T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7311T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3704T>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7311T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1152T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1133-23A>T
  variant of: http://identifiers.org/hgnc/8064
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9075
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

9-134015913-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015913
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015912
    reference: chr 9
allele count: 1
allele frequency: 8.547885253188362e-6
allele num: 116988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1151delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.147-18delT
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1133-18delT
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1133-18delT
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3705delA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1133-18delT
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3705delA
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7312delA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1151delA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1151delA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1151delA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7312delA
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 9075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: AT
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

9-134015919-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015919
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015919
    reference: chr 9
allele count: 1
allele frequency: 8.487667419239845e-6
allele num: 117818
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7317C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1146C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1133-17G>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3710C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1146C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1146C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.147-17G>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1133-17G>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3710C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1146C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7317C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1133-17G>T
  variant of: http://identifiers.org/hgnc/8064
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

9-134015923-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015923
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015923
    reference: chr 9
allele count: 4
allele frequency: 3.375698347595659e-5
allele num: 118494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1133-13T>A
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1133-13T>A
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1142A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7321A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3714A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1142A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.147-13T>A
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1133-13T>A
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1142A>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7321A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1142A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3714A>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9239
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7858
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

9-134015924-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015924
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015924
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 118528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1133-12C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.147-12C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3715G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3715G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1133-12C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1133-12C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1141G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1141G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7322G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1141G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1141G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7322G>A
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 7784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23035
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

9-134015925-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015925
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015925
    reference: chr 9
allele count: 1
allele frequency: 8.419209267865562e-6
allele num: 118776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3716A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.147-11T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1133-11T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1140A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1140A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1140A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3716A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1133-11T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1140A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7323A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7323A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1133-11T>C
  variant of: http://identifiers.org/hgnc/8064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

9-134015929-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015929
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015929
    reference: chr 9
allele count: 1
allele frequency: 8.373806732540612e-6
allele num: 119420
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1133-7T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1136A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1133-7T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.147-7T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1136A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1133-7T>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7327A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3720A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1136A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7327A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3720A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1136A>G
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1133-7T>C
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

9-134015941-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015941
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015941
    reference: chr 9
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.152G>A
  hgvsp: ENSP00000434223.1:p.Glu52Lys
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1124C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1124C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1138G>A
  hgvsp: ENSP00000396576.2:p.Glu380Lys
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1124C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3732C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3732C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1138G>A
  hgvsp: ENSP00000352400.5:p.Glu380Lys
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1124C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1138G>A
  hgvsp: ENSP00000405014.1:p.Glu380Lys
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7339C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7339C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu380Lys
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

9-134015947-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015947
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015945
    reference: chr 9
allele count: 1
allele frequency: 8.266239026567692e-6
allele num: 120974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3740_531-3739delAG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3740_531-3739delAG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1116_619+1117delAG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1116_619+1117delAG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7347_531-7346delAG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1147_1148delCT
  hgvsp: ENSP00000405014.1:p.Leu383SerfsTer22
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.161_162delCT
  hgvsp: ENSP00000434223.1:p.Leu55SerfsTer22
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1147_1148delCT
  hgvsp: ENSP00000396576.2:p.Leu383SerfsTer22
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1116_619+1117delAG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1116_428+1117delAG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1147_1148delCT
  hgvsp: ENSP00000352400.5:p.Leu383SerfsTer22
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7347_724-7346delAG
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9851
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu383SerfsTer22
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: ACT
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

9-134015956-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015956
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015956
    reference: chr 9
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1109G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3747G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1153C>T
  hgvsp: ENSP00000352400.5:p.Pro385Ser
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.167C>T
  hgvsp: ENSP00000434223.1:p.Pro57Ser
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7354G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1109G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1153C>T
  hgvsp: ENSP00000405014.1:p.Pro385Ser
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7354G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3747G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1109G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1153C>T
  hgvsp: ENSP00000396576.2:p.Pro385Ser
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1109G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro385Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

9-134015961-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015961
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015961
    reference: chr 9
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1104A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1158T>C
  hgvsp: ENST00000451030.1:c.1158T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1104A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1158T>C
  hgvsp: ENST00000359428.5:c.1158T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7359A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1104A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1104A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1158T>C
  hgvsp: ENST00000411637.2:c.1158T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7359A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.172T>C
  hgvsp: ENST00000530863.1:c.172T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3752A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3752A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala386Ala
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

9-134015962-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015962
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015962
    reference: chr 9
allele count: 4
allele frequency: 3.299404457495422e-5
allele num: 121234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7360G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3753G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1159C>G
  hgvsp: ENSP00000405014.1:p.Pro387Ala
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1103G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1103G>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7360G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1103G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1159C>G
  hgvsp: ENSP00000352400.5:p.Pro387Ala
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3753G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.173C>G
  hgvsp: ENSP00000434223.1:p.Pro59Ala
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1159C>G
  hgvsp: ENSP00000396576.2:p.Pro387Ala
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1103G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10109
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7782
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro387Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

9-134015962-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015962
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015962
    reference: chr 9
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1103G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7360G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1159C>T
  hgvsp: ENSP00000405014.1:p.Pro387Ser
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.173C>T
  hgvsp: ENSP00000434223.1:p.Pro59Ser
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3753G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1103G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1159C>T
  hgvsp: ENSP00000396576.2:p.Pro387Ser
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7360G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1159C>T
  hgvsp: ENSP00000352400.5:p.Pro387Ser
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1103G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1103G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3753G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro387Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-134015970-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015970
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015970
    reference: chr 9
allele count: 2
allele frequency: 1.649185302460584e-5
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3761G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1167C>T
  hgvsp: ENST00000451030.1:c.1167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1167C>T
  hgvsp: ENST00000359428.5:c.1167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1095G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1095G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1095G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1167C>T
  hgvsp: ENST00000411637.2:c.1167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.181C>T
  hgvsp: ENST00000530863.1:c.181C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7368G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7368G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3761G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1095G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu389Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

9-134015976-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015976
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015976
    reference: chr 9
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1173A>G
  hgvsp: ENST00000411637.2:c.1173A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3767T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3767T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1173A>G
  hgvsp: ENST00000359428.5:c.1173A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.187A>G
  hgvsp: ENST00000530863.1:c.187A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7374T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1173A>G
  hgvsp: ENST00000451030.1:c.1173A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1089T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7374T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1089T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1089T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1089T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu391Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

9-134015977-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015977
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015977
    reference: chr 9
allele count: 3
allele frequency: 2.473329266080762e-5
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1174C>T
  hgvsp: ENSP00000396576.2:p.Leu392Phe
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1088G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1088G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.188C>T
  hgvsp: ENSP00000434223.1:p.Leu64Phe
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7375G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1088G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7375G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1174C>T
  hgvsp: ENSP00000405014.1:p.Leu392Phe
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1174C>T
  hgvsp: ENSP00000352400.5:p.Leu392Phe
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3768G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1088G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3768G>A
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7783
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu392Phe
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

9-134015983-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015983
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015983
    reference: chr 9
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1180A>G
  hgvsp: ENSP00000396576.2:p.Thr394Ala
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7381T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1180A>G
  hgvsp: ENSP00000352400.5:p.Thr394Ala
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1082T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1082T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1180A>G
  hgvsp: ENSP00000405014.1:p.Thr394Ala
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3774T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1082T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3774T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7381T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.194A>G
  hgvsp: ENSP00000434223.1:p.Thr66Ala
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1082T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr394Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

9-134015985-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015985
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015985
    reference: chr 9
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.196A>T
  hgvsp: ENST00000530863.1:c.196A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3776T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7383T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1080T>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1182A>T
  hgvsp: ENST00000411637.2:c.1182A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7383T>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1182A>T
  hgvsp: ENST00000359428.5:c.1182A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1080T>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1182A>T
  hgvsp: ENST00000451030.1:c.1182A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1080T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3776T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1080T>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr394Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

9-134015992-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134015992
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134015992
    reference: chr 9
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1073C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3783C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1189G>T
  hgvsp: ENSP00000405014.1:p.Val397Leu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.203G>T
  hgvsp: ENSP00000434223.1:p.Val69Leu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1189G>T
  hgvsp: ENSP00000352400.5:p.Val397Leu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7390C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3783C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7390C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1189G>T
  hgvsp: ENSP00000396576.2:p.Val397Leu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1073C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1073C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1073C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val397Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

9-134016001-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134016001
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134016001
    reference: chr 9
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.212C>G
  hgvsp: ENSP00000434223.1:p.Pro72Ala
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1064G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3792G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1198C>G
  hgvsp: ENSP00000405014.1:p.Pro400Ala
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3792G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1064G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1198C>G
  hgvsp: ENSP00000396576.2:p.Pro400Ala
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1064G>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7399G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1198C>G
  hgvsp: ENSP00000352400.5:p.Pro400Ala
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1064G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7399G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro400Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

9-134016003-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134016003
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134016003
    reference: chr 9
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1062T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1062T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1200A>G
  hgvsp: ENST00000451030.1:c.1200A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7401T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1062T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1200A>G
  hgvsp: ENST00000411637.2:c.1200A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7401T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1062T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3794T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.214A>G
  hgvsp: ENST00000530863.1:c.214A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1200A>G
  hgvsp: ENST00000359428.5:c.1200A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3794T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro400Pro
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

9-134016031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134016031
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134016031
    reference: chr 9
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1228G>A
  hgvsp: ENSP00000352400.5:p.Val410Ile
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.242G>A
  hgvsp: ENSP00000434223.1:p.Val82Ile
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1034C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1228G>A
  hgvsp: ENSP00000396576.2:p.Val410Ile
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7429C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1034C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1034C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1228G>A
  hgvsp: ENSP00000405014.1:p.Val410Ile
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7429C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1034C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3822C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3822C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val410Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

9-134016036-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134016036
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134016036
    reference: chr 9
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.247G>A
  hgvsp: ENST00000530863.1:c.247G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1029C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1233G>A
  hgvsp: ENST00000411637.2:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1029C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1233G>A
  hgvsp: ENST00000451030.1:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1029C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7434C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7434C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3827C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1233G>A
  hgvsp: ENST00000359428.5:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1029C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3827C>T
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys411Lys
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD

9-134016050-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134016050
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134016050
    reference: chr 9
allele count: 3
allele frequency: 2.47320692497939e-5
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7448G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.261C>T
  hgvsp: ENSP00000434223.1:p.Thr88Ile
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3841G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1015G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1247C>T
  hgvsp: ENSP00000405014.1:p.Thr416Ile
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1015G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1015G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1247C>T
  hgvsp: ENSP00000352400.5:p.Thr416Ile
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1015G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7448G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1247C>T
  hgvsp: ENSP00000396576.2:p.Thr416Ile
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3841G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr416Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

9-134016053-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134016053
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134016053
    reference: chr 9
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1012G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.264C>T
  hgvsp: ENSP00000434223.1:p.Pro89Leu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1250C>T
  hgvsp: ENSP00000405014.1:p.Pro417Leu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7451G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1012G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1250C>T
  hgvsp: ENSP00000396576.2:p.Pro417Leu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3844G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1250C>T
  hgvsp: ENSP00000352400.5:p.Pro417Leu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1012G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3844G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1012G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7451G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro417Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum

9-134016056-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134016056
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134016056
    reference: chr 9
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1009T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3847T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1009T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.267A>G
  hgvsp: ENSP00000434223.1:p.Glu90Gly
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1253A>G
  hgvsp: ENSP00000396576.2:p.Glu418Gly
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1253A>G
  hgvsp: ENSP00000405014.1:p.Glu418Gly
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7454T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1009T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3847T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7454T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1253A>G
  hgvsp: ENSP00000352400.5:p.Glu418Gly
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1009T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu418Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

9-134016059-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134016059
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134016059
    reference: chr 9
allele count: 48
allele frequency: 3.957848909117894e-4
allele num: 121278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3850C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1256G>A
  hgvsp: ENSP00000405014.1:p.Arg419Gln
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1256G>A
  hgvsp: ENSP00000352400.5:p.Arg419Gln
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1006C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.270G>A
  hgvsp: ENSP00000434223.1:p.Arg91Gln
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3850C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7457C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1006C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7457C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1256G>A
  hgvsp: ENSP00000396576.2:p.Arg419Gln
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1006C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1006C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10131
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Arg419Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP

9-134016064-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134016064
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134016064
    reference: chr 9
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1261T>G
  hgvsp: ENSP00000352400.5:p.Ser421Ala
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+1001A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1261T>G
  hgvsp: ENSP00000405014.1:p.Ser421Ala
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.275T>G
  hgvsp: ENSP00000434223.1:p.Ser93Ala
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+1001A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+1001A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1261T>G
  hgvsp: ENSP00000396576.2:p.Ser421Ala
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+1001A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3855A>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7462A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3855A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7462A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser421Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-134016068-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134016068
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134016068
    reference: chr 9
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1265T>C
  hgvsp: ENSP00000405014.1:p.Leu422Ser
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7466A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.279T>C
  hgvsp: ENSP00000434223.1:p.Leu94Ser
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+997A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+997A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+997A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+997A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1265T>C
  hgvsp: ENSP00000352400.5:p.Leu422Ser
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3859A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3859A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7466A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1265T>C
  hgvsp: ENSP00000396576.2:p.Leu422Ser
  variant of: http://identifiers.org/hgnc/8064
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu422Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

9-134016074-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134016074
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134016074
    reference: chr 9
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+991C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+991C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+991C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.285G>A
  hgvsp: ENSP00000434223.1:p.Gly96Glu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1271G>A
  hgvsp: ENSP00000405014.1:p.Gly424Glu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3865C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+991C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1271G>A
  hgvsp: ENSP00000396576.2:p.Gly424Glu
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7472C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7472C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3865C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1271G>A
  hgvsp: ENSP00000352400.5:p.Gly424Glu
  variant of: http://identifiers.org/hgnc/8064
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly424Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

9-134016093-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134016093
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134016093
    reference: chr 9
allele count: 2
allele frequency: 1.657412778652524e-5
allele num: 120670
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+972T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+972T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3884T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1290A>G
  hgvsp: ENST00000411637.2:c.1290A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7491T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1290A>G
  hgvsp: ENST00000451030.1:c.1290A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+972T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.304A>G
  hgvsp: ENST00000530863.1:c.304A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3884T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7491T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1290A>G
  hgvsp: ENST00000359428.5:c.1290A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+972T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser430Ser
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

9-134016094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134016094
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134016094
    reference: chr 9
allele count: 29
allele frequency: 2.404204871416491e-4
allele num: 120622
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7492G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.305C>T
  hgvsp: ENSP00000434223.1:p.Pro103Ser
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1291C>T
  hgvsp: ENSP00000352400.5:p.Pro431Ser
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+971G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+971G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+971G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+971G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1291C>T
  hgvsp: ENSP00000396576.2:p.Pro431Ser
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3885G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7492G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1291C>T
  hgvsp: ENSP00000405014.1:p.Pro431Ser
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3885G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro431Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

9-134016105-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134016105
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134016105
    reference: chr 9
allele count: 1
allele frequency: 8.316423272678886e-6
allele num: 120244
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7503G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3896G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+960G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+960G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1294+8C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1294+8C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1294+8C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7503G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3896G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+960G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+960G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.308+8C>T
  variant of: http://identifiers.org/hgnc/8064
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1294+8C>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-134016107-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134016107
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134016107
    reference: chr 9
allele count: 3
allele frequency: 2.496047924120143e-5
allele num: 120190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+958A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1294+10T>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.308+10T>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+958A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3898A>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7505A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1294+10T>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1294+10T>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3898A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+958A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7505A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+958A>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

9-134016110-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134016110
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134016110
    reference: chr 9
allele count: 4
allele frequency: 3.330114222917846e-5
allele num: 120116
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1294+13G>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7508C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1294+13G>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3901C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+955C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3901C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+955C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+955C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+955C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.308+13G>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1294+13G>C
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7508C>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4230
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

9-134016112-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134016112
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134016112
    reference: chr 9
allele count: 1
allele frequency: 8.332361224523806e-6
allele num: 120014
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+953G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.308+15C>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3903G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1294+15C>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3903G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1294+15C>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1294+15C>G
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+953G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+953G>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7510G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7510G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+953G>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3889
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

9-134016121-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134016121
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134016121
    reference: chr 9
allele count: 18851
allele frequency: 1.576645144023285e-1
allele num: 119564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000434223
  ensembl transcript: ENST00000530863
  gene symbol: NUP214
  hgvsc: ENST00000530863.1:c.308+24C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000588378
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000588378.1:n.531-3912G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587408
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587408.1:n.428+944G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000415391
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000415391.2:n.531-3912G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589540
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589540.1:n.724-7519G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000405014
  ensembl transcript: ENST00000451030
  gene symbol: NUP214
  hgvsc: ENST00000451030.1:c.1294+24C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000590461
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000590461.1:n.619+944G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000396576
  ensembl transcript: ENST00000411637
  gene symbol: NUP214
  hgvsc: ENST00000411637.2:c.1294+24C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000586290
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000586290.1:n.619+944G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126883
  ensembl protein: ENSP00000352400
  ensembl transcript: ENST00000359428
  gene symbol: NUP214
  hgvsc: ENST00000359428.5:c.1294+24C>T
  variant of: http://identifiers.org/hgnc/8064
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000589667
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000589667.1:n.619+944G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236986
  ensembl transcript: ENST00000587264
  gene symbol: RP11-544A12.4
  hgvsc: ENST00000587264.1:n.531-7519G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 1.25e1
  variant carriers: 290
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 208
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.25e1
  variant carriers: 332
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.25e1
  variant carriers: 679
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 2.25e1
  variant carriers: 569
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.75e1
  variant carriers: 511
genotype depth: GenotypeDepth
  all individuals: 9723
  bin: 3.25e1
  variant carriers: 779
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.5e0
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 3.75e1
  variant carriers: 1208
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 5.25e1
  variant carriers: 2083
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 5.75e1
  variant carriers: 1857
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.75e1
  variant carriers: 475
genotype depth: GenotypeDepth
  all individuals: 9185
  bin: 2.75e1
  variant carriers: 583
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 6.75e1
  variant carriers: 1043
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 9.75e1
  variant carriers: 1161
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 4.75e1
  variant carriers: 2048
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 4.25e1
  variant carriers: 1736
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.75e1
  variant carriers: 289
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 6.25e1
  variant carriers: 1442
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 9
num of homozygotes: 1583
reference allele: C

GenotypeDepth
all individuals: 438
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1713
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 38203
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2948
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2331
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9486
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3260
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
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African
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Other
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East Asian
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European (Finnish)
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South Asian
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InbreedingCoeff
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DP
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MQ
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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South Asian
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QD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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MQ
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VQSLOD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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Other
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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InbreedingCoeff
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FS
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MQRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66710
num of homozygotes: 0

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

European (Non-Finnish)
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Latino
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African
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East Asian
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South Asian
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Other
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InbreedingCoeff
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VQSLOD
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QD
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FS
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BaseQRankSum
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MQRankSum
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DP
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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African
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InbreedingCoeff
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MQRankSum
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DP
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QD
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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African
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Other
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
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MQ
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BaseQRankSum
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DP
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InbreedingCoeff
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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European (Finnish)
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South Asian
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East Asian
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African
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European (Non-Finnish)
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FS
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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QD
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MQ
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VQSLOD
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Other
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African
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Latino
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South Asian
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European (Finnish)
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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VQSLOD
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DP
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ReadPosRankSum
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MQRankSum
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Latino
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South Asian
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African
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European (Non-Finnish)
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Other
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MQ
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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FS
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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East Asian
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Other
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQ
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FS
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MQRankSum
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DP
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QD
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 64

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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 3.997093023255814e-3
allele num: 16512
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East Asian
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BaseQRankSum
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VQSLOD
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MQ
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DP
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ClippingRankSum
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FS
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QD
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MQRankSum
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InbreedingCoeff
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SIO_000300: 8.05e-2

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10406
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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QD
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BaseQRankSum
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FS
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DP
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MQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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allele frequency: 0.0e0
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African
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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Other
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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MQ
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MQRankSum
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FS
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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ClippingRankSum
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MQ
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FS
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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ReadPosRankSum
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
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allele num: 11568
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
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allele num: 66702
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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MQ
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QD
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MQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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South Asian
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Other
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Latino
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African
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ReadPosRankSum
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MQRankSum
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DP
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MQ
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InbreedingCoeff
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VQSLOD
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QD
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FS
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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African
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European (Finnish)
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Latino
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VQSLOD
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BaseQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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QD
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.888e1

DP
type: SiteQuality
SIO_000300: 1.460241e6

GenotypeQuality
all individuals: 9415
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2340
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37315
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3273
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1388
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2941
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.81e-1

DP
type: SiteQuality
SIO_000300: 1.460521e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

QD
type: SiteQuality
SIO_000300: 1.304e1

FS
type: SiteQuality
SIO_000300: 2.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
all individuals: 155
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3456
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4392
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2809
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20802
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8143
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8346
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.700391089950689e-4
allele num: 11762
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63992
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.37e-1

FS
type: SiteQuality
SIO_000300: 3.302e0

VQSLOD
type: SiteQuality
SIO_000300: -1.713e-1

DP
type: SiteQuality
SIO_000300: 2.150776e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.438e0

QD
type: SiteQuality
SIO_000300: 1.703e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.37e-1

GenotypeQuality
all individuals: 20816
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3038
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4260
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4420
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1067
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8767
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2231
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2758
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3467
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4785
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
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: 824
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.032631144155308e-4
allele num: 9684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64078
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.157593e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.299e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

QD
type: SiteQuality
SIO_000300: 9.58e0

MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

GenotypeQuality
all individuals: 4445
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4280
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2792
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4890
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3484
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3292
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1310
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20823
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9417
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.115847198853368e-5
allele num: 64188
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11924
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.66e-1

DP
type: SiteQuality
SIO_000300: 2.166187e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
type: SiteQuality
SIO_000300: 5.82e-1

FS
type: SiteQuality
SIO_000300: 1.452e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.72e0

QD
type: SiteQuality
SIO_000300: 1.606e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.86e-1

GenotypeQuality
all individuals: 2074
bin: 9.25e1
variant carriers: 163

GenotypeQuality
all individuals: 1969
bin: 2.25e1
variant carriers: 77

GenotypeQuality
all individuals: 3588
bin: 6.75e1
variant carriers: 92

GenotypeQuality
all individuals: 480
bin: 3.75e1
variant carriers: 117

GenotypeQuality
all individuals: 3084
bin: 7.75e1
variant carriers: 123

GenotypeQuality
all individuals: 239
bin: 4.75e1
variant carriers: 104

GenotypeQuality
all individuals: 287
bin: 2.5e0
variant carriers: 7

GenotypeQuality
all individuals: 215
bin: 7.5e0
variant carriers: 21

GenotypeQuality
all individuals: 1930
bin: 7.25e1
variant carriers: 64

GenotypeQuality
all individuals: 230
bin: 4.25e1
variant carriers: 79

GenotypeQuality
all individuals: 2759
bin: 8.25e1
variant carriers: 145

GenotypeQuality
all individuals: 33039
bin: 9.75e1
variant carriers: 25271

GenotypeQuality
all individuals: 157
bin: 1.75e1
variant carriers: 53

GenotypeQuality
all individuals: 759
bin: 3.25e1
variant carriers: 110

GenotypeQuality
all individuals: 534
bin: 2.75e1
variant carriers: 52

GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 76

GenotypeQuality
all individuals: 1386
bin: 8.75e1
variant carriers: 125

GenotypeQuality
all individuals: 107
bin: 1.25e1
variant carriers: 19

GenotypeQuality
all individuals: 7491
bin: 6.25e1
variant carriers: 81

European (Non-Finnish)
type: Population
allele count: 15128
allele frequency: 2.335793471883396e-1
allele num: 64766
num of homozygotes: 1724

Latino
type: Population
allele count: 2223
allele frequency: 1.945562751619114e-1
allele num: 11426
num of homozygotes: 228

Other
type: Population
allele count: 223
allele frequency: 2.605140186915888e-1
allele num: 856
num of homozygotes: 30

African
type: Population
allele count: 3309
allele frequency: 3.363488513925595e-1
allele num: 9838
num of homozygotes: 554

East Asian
type: Population
allele count: 3688
allele frequency: 4.340866290018832e-1
allele num: 8496
num of homozygotes: 799

European (Finnish)
type: Population
allele count: 1455
allele frequency: 2.216636197440585e-1
allele num: 6564
num of homozygotes: 156

South Asian
type: Population
allele count: 4459
allele frequency: 3.365791062801932e-1
allele num: 13248
num of homozygotes: 743

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.974e1

VQSLOD
type: SiteQuality
SIO_000300: 5.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

DP
type: SiteQuality
SIO_000300: 2.547114e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.51e-2

GenotypeQuality
all individuals: 2348
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10690
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3852
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4957
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2003
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 986
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3173
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23037
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 2584
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4173
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9886
num of homozygotes: 0

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

South Asian
type: Population
allele count: 9
allele frequency: 6.574141709276845e-4
allele num: 13690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.60433421327276e-5
allele num: 65156
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.543e0

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

DP
type: SiteQuality
SIO_000300: 2.361247e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

FS
type: SiteQuality
SIO_000300: 3.611e0

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

GenotypeQuality
all individuals: 975
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4969
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23030
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2297
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3176
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10645
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3857
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2596
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4180
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13766
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.715356458079135e-5
allele num: 11474
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65172
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 1.127e1

VQSLOD
type: SiteQuality
SIO_000300: -2.856e0

QD
type: SiteQuality
SIO_000300: 1.355e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.438e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e0

DP
type: SiteQuality
SIO_000300: 2.362261e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.67e-1

GenotypeQuality
all individuals: 615
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2592
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 23030
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11913
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2011
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4188
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5015
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

African
type: Population
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.529566520847992e-5
allele num: 65378
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65378
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele frequency: 1.522672594938636e-5
allele num: 65674
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Latino
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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FS
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QD
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MQ
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65870
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 2.669514148424986e-4
allele num: 14984
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

MQRankSum
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VQSLOD
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QD
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MQ
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ReadPosRankSum
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.838e0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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InbreedingCoeff
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MQ
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BaseQRankSum
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MQRankSum
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FS
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DP
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ReadPosRankSum
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QD
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 894
num of homozygotes: 0

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

South Asian
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European (Non-Finnish)
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allele num: 65948
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African
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European (Finnish)
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QD
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DP
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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South Asian
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Latino
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Other
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European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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ClippingRankSum
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QD
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DP
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Finnish)
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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QD
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InbreedingCoeff
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2010
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.114711997064938e-5
allele num: 16354
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66550
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: 8650
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.344e1

MQ
type: SiteQuality
SIO_000300: 6.19e1

DP
type: SiteQuality
SIO_000300: 2.42595e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

GenotypeQuality
all individuals: 4250
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 2009
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.412e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.35e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.123e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

QD
type: SiteQuality
SIO_000300: 1.071e1

DP
type: SiteQuality
SIO_000300: 2.42895e6

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.324e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.435e0

DP
type: SiteQuality
SIO_000300: 2.429992e6

QD
type: SiteQuality
SIO_000300: 1.824e1

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

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23053
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3189
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2676
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2008
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3892
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.426301103967002e-4
allele num: 16486
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: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.483e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.166e1

VQSLOD
type: SiteQuality
SIO_000300: 6.06e-1

DP
type: SiteQuality
SIO_000300: 2.430343e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

GenotypeQuality
all individuals: 5397
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15938
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23053
bin: 9.75e1
variant carriers: 1

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.166e1

FS
type: SiteQuality
SIO_000300: 6.483e0

VQSLOD
type: SiteQuality
SIO_000300: 6.06e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 2.430343e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

GenotypeQuality
all individuals: 3892
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 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: 16498
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

DP
type: SiteQuality
SIO_000300: 2.431142e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

FS
type: SiteQuality
SIO_000300: 3.339e0

QD
type: SiteQuality
SIO_000300: 1.186e1

VQSLOD
type: SiteQuality
SIO_000300: 9.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.185e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3188
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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BaseQRankSum
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QD
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DP
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.877e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23051
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele num: 66700
num of homozygotes: 0

African
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East Asian
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Latino
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European (Finnish)
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South Asian
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Other
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DP
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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Other
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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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DP
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQ
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FS
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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African
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Other
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East Asian
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European (Non-Finnish)
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South Asian
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
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DP
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QD
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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InbreedingCoeff
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MQRankSum
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DP
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MQ
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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FS
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SIO_000300: 1.131e0

QD
type: SiteQuality
SIO_000300: 2.45e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498965237995261e-5
allele num: 66682
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

InbreedingCoeff
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SIO_000300: -2.0e-4

FS
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SIO_000300: 8.852e0

ReadPosRankSum
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SIO_000300: -6.74e-1

BaseQRankSum
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SIO_000300: -6.433e0

MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

DP
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SIO_000300: 2.431548e6

QD
type: SiteQuality
SIO_000300: 1.261e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.03e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
all individuals: 2
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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MQRankSum
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SIO_000300: -2.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.28e0

FS
type: SiteQuality
SIO_000300: 3.681e0

DP
type: SiteQuality
SIO_000300: 2.431501e6

QD
type: SiteQuality
SIO_000300: 1.279e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2005
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

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

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

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

MQRankSum
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SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -2.99e-1

DP
type: SiteQuality
SIO_000300: 2.431257e6

QD
type: SiteQuality
SIO_000300: 1.527e1

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 48

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 34
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349892008639309e-4
allele num: 66672
num of homozygotes: 0

European (Finnish)
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allele count: 2
allele frequency: 3.024803387779795e-4
allele num: 6612
num of homozygotes: 0

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

African
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allele count: 35
allele frequency: 3.36732730421397e-3
allele num: 10394
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.730702665282105e-4
allele num: 11556
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16488
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VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

BaseQRankSum
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SIO_000300: -7.38e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.387e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

InbreedingCoeff
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SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 5.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

DP
type: SiteQuality
SIO_000300: 2.433853e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

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

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

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

East Asian
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allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

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

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

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

South Asian
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allele frequency: 6.076810889645114e-5
allele num: 16456
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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Other
type: Population
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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VQSLOD
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16106
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.732801940738174e-4
allele num: 11542
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
SIO_000300: 5.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

DP
type: SiteQuality
SIO_000300: 2.418361e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.35e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.437e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

GenotypeQuality
all individuals: 210
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2664
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14505
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 29

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3186
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16070
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.212553409159295e-4
allele num: 66468
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 5.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.814e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

QD
type: SiteQuality
SIO_000300: 1.289e1

DP
type: SiteQuality
SIO_000300: 2.418194e6

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.11e-1

GenotypeQuality
all individuals: 13373
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3892
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506568639267205e-5
allele num: 66376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

FS
type: SiteQuality
SIO_000300: 4.074e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.443e0

MQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

DP
type: SiteQuality
SIO_000300: 2.405888e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.79e-1

GenotypeQuality
all individuals: 4232
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1492
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23030
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 390
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13170
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5199
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3184
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.893518518518518e-4
allele num: 10368
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66368
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15772
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.83e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-2

DP
type: SiteQuality
SIO_000300: 2.403965e6

QD
type: SiteQuality
SIO_000300: 1.401e1

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1577
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12981
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23029
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2005
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 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: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66352
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.46860908775581e-4
allele num: 11532
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15726
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.247e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.345e1

DP
type: SiteQuality
SIO_000300: 2.401439e6

GenotypeQuality
all individuals: 2641
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
all individuals: 2003
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23027
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15660
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
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: 1.507977199384745e-5
allele num: 66314
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 2.216e1

VQSLOD
type: SiteQuality
SIO_000300: -2.148e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.149e0

DP
type: SiteQuality
SIO_000300: 2.39948e6

GenotypeQuality
all individuals: 128
bin: 5.25e1
variant carriers: 26

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 7

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 19

GenotypeQuality
all individuals: 3789
bin: 7.75e1
variant carriers: 50

GenotypeQuality
all individuals: 518
bin: 2.75e1
variant carriers: 9

GenotypeQuality
all individuals: 27590
bin: 9.75e1
variant carriers: 16867

GenotypeQuality
all individuals: 4656
bin: 6.75e1
variant carriers: 30

GenotypeQuality
all individuals: 601
bin: 3.25e1
variant carriers: 15

GenotypeQuality
all individuals: 2364
bin: 7.25e1
variant carriers: 29

GenotypeQuality
all individuals: 3354
bin: 8.25e1
variant carriers: 56