3-130851573-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851573
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851573
    reference: chr 3
allele count: 1
allele frequency: 1.22013714341492e-5
allele num: 81958
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.456-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.456-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1676-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.456-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.456-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.456-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.286-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.12-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.224-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.456-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.456-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.456-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.261-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*50-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.456-16T>G
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

3-130851578-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851578
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851578
    reference: chr 3
allele count: 83
allele frequency: 9.904770996921168e-4
allele num: 83798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.456-11G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.456-11G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.456-11G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.286-11G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.456-11G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.261-11G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.456-11G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.456-11G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.456-11G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.456-11G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.224-11G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.12-11G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.456-11G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*50-11G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1676-11G>A
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16725
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23704
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 1.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

3-130851579-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851579
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851579
    reference: chr 3
allele count: 1
allele frequency: 1.188693150750065e-5
allele num: 84126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.456-10C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.456-10C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.12-10C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.456-10C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.456-10C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.456-10C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.456-10C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.261-10C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.456-10C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.286-10C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.456-10C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.224-10C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1676-10C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.456-10C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*50-10C>G
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

3-130851592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851592
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851592
    reference: chr 3
allele count: 1
allele frequency: 1.146894210478026e-5
allele num: 87192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1679G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.264G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.459G>A
  hgvsp: ENST00000508196.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.459G>A
  hgvsp: ENST00000356918.4:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.15G>A
  hgvsp: ENST00000412440.2:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.459G>A
  hgvsp: ENST00000511262.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.459G>A
  hgvsp: ENST00000507910.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.459G>A
  hgvsp: ENST00000383366.4:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*53G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.459G>A
  hgvsp: ENST00000510688.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.459G>A
  hgvsp: ENST00000510769.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.459G>A
  hgvsp: ENST00000429253.2:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.227G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.459G>A
  hgvsp: ENST00000514915.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.289G>A
  hgvsp: ENST00000602792.1:c.289G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7905
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg153Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

3-130851597-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851597
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851597
    reference: chr 3
allele count: 1
allele frequency: 1.144400448604976e-5
allele num: 87382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.269T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.464T>G
  hgvsp: ENSP00000397180.2:p.Leu155Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1684T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*58T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.464T>G
  hgvsp: ENSP00000372857.4:p.Leu155Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.464T>G
  hgvsp: ENSP00000421851.1:p.Leu155Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.464T>G
  hgvsp: ENSP00000425114.1:p.Leu155Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.464T>G
  hgvsp: ENSP00000426662.1:p.Leu155Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.464T>G
  hgvsp: ENSP00000425662.1:p.Leu155Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.294T>G
  hgvsp: ENSP00000473422.1:p.Leu99Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.464T>G
  hgvsp: ENSP00000349389.4:p.Leu155Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.232T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.20T>G
  hgvsp: ENSP00000411888.2:p.Leu7Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.464T>G
  hgvsp: ENSP00000423458.1:p.Leu155Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.464T>G
  hgvsp: ENSP00000421549.1:p.Leu155Arg
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu155Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

3-130851600-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851600
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851600
    reference: chr 3
allele count: 1
allele frequency: 1.146289461014695e-5
allele num: 87238
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.467A>G
  hgvsp: ENSP00000372857.4:p.His156Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.467A>G
  hgvsp: ENSP00000421851.1:p.His156Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.297A>G
  hgvsp: ENSP00000473422.1:p.His100Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.467A>G
  hgvsp: ENSP00000421549.1:p.His156Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.467A>G
  hgvsp: ENSP00000425662.1:p.His156Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1687A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.467A>G
  hgvsp: ENSP00000423458.1:p.His156Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.467A>G
  hgvsp: ENSP00000426662.1:p.His156Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.272A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*61A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.467A>G
  hgvsp: ENSP00000425114.1:p.His156Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.23A>G
  hgvsp: ENSP00000411888.2:p.His8Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.467A>G
  hgvsp: ENSP00000349389.4:p.His156Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.467A>G
  hgvsp: ENSP00000397180.2:p.His156Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.235A>G
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His156Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

3-130851603-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851603
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851603
    reference: chr 3
allele count: 4
allele frequency: 4.599075585807253e-5
allele num: 86974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.470G>A
  hgvsp: ENSP00000397180.2:p.Arg157Gln
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.275G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.470G>A
  hgvsp: ENSP00000425662.1:p.Arg157Gln
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*64G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1690G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.470G>A
  hgvsp: ENSP00000372857.4:p.Arg157Gln
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.238G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.470G>A
  hgvsp: ENSP00000425114.1:p.Arg157Gln
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.470G>A
  hgvsp: ENSP00000426662.1:p.Arg157Gln
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.470G>A
  hgvsp: ENSP00000421549.1:p.Arg157Gln
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.470G>A
  hgvsp: ENSP00000423458.1:p.Arg157Gln
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.470G>A
  hgvsp: ENSP00000421851.1:p.Arg157Gln
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.26G>A
  hgvsp: ENSP00000411888.2:p.Arg9Gln
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.300G>A
  hgvsp: ENSP00000473422.1:p.Arg101Gln
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.470G>A
  hgvsp: ENSP00000349389.4:p.Arg157Gln
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15469
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg157Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD

3-130851614-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851614
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851614
    reference: chr 3
allele count: 2
allele frequency: 2.355379687205577e-5
allele num: 84912
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.481T>C
  hgvsp: ENSP00000421549.1:p.Ser161Pro
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.311T>C
  hgvsp: ENSP00000473422.1:p.Ser105Pro
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.481T>C
  hgvsp: ENSP00000426662.1:p.Ser161Pro
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.481T>C
  hgvsp: ENSP00000397180.2:p.Ser161Pro
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1701T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.481T>C
  hgvsp: ENSP00000425662.1:p.Ser161Pro
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.286T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.481T>C
  hgvsp: ENSP00000421851.1:p.Ser161Pro
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.481T>C
  hgvsp: ENSP00000425114.1:p.Ser161Pro
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.481T>C
  hgvsp: ENSP00000349389.4:p.Ser161Pro
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*75T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.249T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.481T>C
  hgvsp: ENSP00000372857.4:p.Ser161Pro
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.37T>C
  hgvsp: ENSP00000411888.2:p.Ser13Pro
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.481T>C
  hgvsp: ENSP00000423458.1:p.Ser161Pro
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16248
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser161Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

3-130851615-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851615
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851615
    reference: chr 3
allele count: 1
allele frequency: 1.178078318646624e-5
allele num: 84884
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*76C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.482C>G
  hgvsp: ENSP00000425114.1:p.Ser161Ter
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.482C>G
  hgvsp: ENSP00000421851.1:p.Ser161Ter
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.482C>G
  hgvsp: ENSP00000426662.1:p.Ser161Ter
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1702C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.482C>G
  hgvsp: ENSP00000397180.2:p.Ser161Ter
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.482C>G
  hgvsp: ENSP00000421549.1:p.Ser161Ter
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.312C>G
  hgvsp: ENSP00000473422.1:p.Ser105Ter
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.482C>G
  hgvsp: ENSP00000425662.1:p.Ser161Ter
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.482C>G
  hgvsp: ENSP00000423458.1:p.Ser161Ter
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.482C>G
  hgvsp: ENSP00000372857.4:p.Ser161Ter
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.482C>G
  hgvsp: ENSP00000349389.4:p.Ser161Ter
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.250C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.287C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.38C>G
  hgvsp: ENSP00000411888.2:p.Ser13Ter
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser161Ter
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

3-130851623-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851623
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851623
    reference: chr 3
allele count: 1
allele frequency: 1.227415553809898e-5
allele num: 81472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.490G>T
  hgvsp: ENSP00000397180.2:p.Val164Leu
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.258G>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.490G>T
  hgvsp: ENSP00000426662.1:p.Val164Leu
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.490G>T
  hgvsp: ENSP00000372857.4:p.Val164Leu
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.490G>T
  hgvsp: ENSP00000423458.1:p.Val164Leu
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.490G>T
  hgvsp: ENSP00000421851.1:p.Val164Leu
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*84G>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.490G>T
  hgvsp: ENSP00000421549.1:p.Val164Leu
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.490G>T
  hgvsp: ENSP00000349389.4:p.Val164Leu
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.320G>T
  hgvsp: ENSP00000473422.1:p.Val108Leu
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.490G>T
  hgvsp: ENSP00000425662.1:p.Val164Leu
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1710G>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.46G>T
  hgvsp: ENSP00000411888.2:p.Val16Leu
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.490G>T
  hgvsp: ENSP00000425114.1:p.Val164Leu
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.295G>T
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val164Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

3-130851637-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851637
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851637
    reference: chr 3
allele count: 3
allele frequency: 4.024144869215292e-5
allele num: 74550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.504T>C
  hgvsp: ENST00000510769.1:c.504T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.504T>C
  hgvsp: ENST00000511262.1:c.504T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.272T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.60T>C
  hgvsp: ENST00000412440.2:c.60T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.504T>C
  hgvsp: ENST00000514915.1:c.504T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.504T>C
  hgvsp: ENST00000507910.1:c.504T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.504T>C
  hgvsp: ENST00000429253.2:c.504T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.504T>C
  hgvsp: ENST00000356918.4:c.504T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.334T>C
  hgvsp: ENST00000602792.1:c.334T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1724T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.504T>C
  hgvsp: ENST00000510688.1:c.504T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.309T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.504T>C
  hgvsp: ENST00000508196.1:c.504T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.504T>C
  hgvsp: ENST00000383366.4:c.504T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*98T>C
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn168Asn
num of homozygotes: 1
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

3-130851639-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851639
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851639
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 74192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*100A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.311A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.506A>G
  hgvsp: ENSP00000421851.1:p.Asn169Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.506A>G
  hgvsp: ENSP00000423458.1:p.Asn169Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.336A>G
  hgvsp: ENSP00000473422.1:p.Asn113Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.62A>G
  hgvsp: ENSP00000411888.2:p.Asn21Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.506A>G
  hgvsp: ENSP00000426662.1:p.Asn169Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.506A>G
  hgvsp: ENSP00000421549.1:p.Asn169Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.506A>G
  hgvsp: ENSP00000425662.1:p.Asn169Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.506A>G
  hgvsp: ENSP00000372857.4:p.Asn169Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.506A>G
  hgvsp: ENSP00000349389.4:p.Asn169Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1726A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.506A>G
  hgvsp: ENSP00000397180.2:p.Asn169Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.506A>G
  hgvsp: ENSP00000425114.1:p.Asn169Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.274A>G
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19216
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn169Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

3-130851640-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851640
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851640
    reference: chr 3
allele count: 1
allele frequency: 1.348254011055683e-5
allele num: 74170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*101T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.507T>A
  hgvsp: ENSP00000426662.1:p.Asn169Lys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.507T>A
  hgvsp: ENSP00000425662.1:p.Asn169Lys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.507T>A
  hgvsp: ENSP00000397180.2:p.Asn169Lys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.337T>A
  hgvsp: ENSP00000473422.1:p.Asn113Lys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.507T>A
  hgvsp: ENSP00000423458.1:p.Asn169Lys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.507T>A
  hgvsp: ENSP00000372857.4:p.Asn169Lys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.63T>A
  hgvsp: ENSP00000411888.2:p.Asn21Lys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.507T>A
  hgvsp: ENSP00000421549.1:p.Asn169Lys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.312T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.275T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.507T>A
  hgvsp: ENSP00000421851.1:p.Asn169Lys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.507T>A
  hgvsp: ENSP00000425114.1:p.Asn169Lys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.507T>A
  hgvsp: ENSP00000349389.4:p.Asn169Lys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1727T>A
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11272
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn169Lys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-130851641-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851641
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851641
    reference: chr 3
allele count: 1
allele frequency: 1.358880282647099e-5
allele num: 73590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*102C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.508C>T
  hgvsp: ENSP00000421851.1:p.Leu170Phe
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.508C>T
  hgvsp: ENSP00000372857.4:p.Leu170Phe
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.508C>T
  hgvsp: ENSP00000425114.1:p.Leu170Phe
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1728C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.508C>T
  hgvsp: ENSP00000423458.1:p.Leu170Phe
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.508C>T
  hgvsp: ENSP00000426662.1:p.Leu170Phe
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.508C>T
  hgvsp: ENSP00000421549.1:p.Leu170Phe
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.64C>T
  hgvsp: ENSP00000411888.2:p.Leu22Phe
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.276C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.338C>T
  hgvsp: ENSP00000473422.1:p.Leu114Phe
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.508C>T
  hgvsp: ENSP00000425662.1:p.Leu170Phe
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.508C>T
  hgvsp: ENSP00000349389.4:p.Leu170Phe
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.313C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.508C>T
  hgvsp: ENSP00000397180.2:p.Leu170Phe
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12629
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu170Phe
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

3-130851643-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851643
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851643
    reference: chr 3
allele count: 1
allele frequency: 1.379805171509783e-5
allele num: 72474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.510C>T
  hgvsp: ENST00000511262.1:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.66C>T
  hgvsp: ENST00000412440.2:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*104C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.510C>T
  hgvsp: ENST00000383366.4:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.510C>T
  hgvsp: ENST00000507910.1:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.510C>T
  hgvsp: ENST00000356918.4:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.315C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.510C>T
  hgvsp: ENST00000510769.1:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.510C>T
  hgvsp: ENST00000429253.2:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.510C>T
  hgvsp: ENST00000510688.1:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.510C>T
  hgvsp: ENST00000514915.1:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.278C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.340C>T
  hgvsp: ENST00000602792.1:c.340C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.510C>T
  hgvsp: ENST00000508196.1:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1730C>T
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu170Leu
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

3-130851657-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851657
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851657
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 65150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1740+4A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.520+4A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.350+4A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.520+4A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.520+4A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.520+4A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.520+4A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.288+4A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.520+4A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*114+4A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.520+4A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.76+4A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.520+4A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.520+4A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.325+4A>G
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7529
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19857
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.520+4A>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

3-130851658-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851658
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851658
    reference: chr 3
allele count: 1
allele frequency: 1.53727901614143e-5
allele num: 65050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.325+5G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.520+5G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.76+5G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.520+5G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.520+5G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.350+5G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.288+5G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1740+5G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.520+5G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.520+5G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.520+5G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.520+5G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.520+5G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.520+5G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*114+5G>A
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.520+5G>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

3-130851666-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851666
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851666
    reference: chr 3
allele count: 4
allele frequency: 6.47542575924367e-5
allele num: 61772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.288+13A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.520+13A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.520+13A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.520+13A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.350+13A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.520+13A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*114+13A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.520+13A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1740+13A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.520+13A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.520+13A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.520+13A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.520+13A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.76+13A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.325+13A>G
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16108
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP

3-130851670-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851670
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851670
    reference: chr 3
allele count: 1
allele frequency: 1.665889251682548e-5
allele num: 60028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.520+17T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.520+17T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.520+17T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.76+17T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.520+17T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.520+17T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.520+17T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.288+17T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.520+17T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.325+17T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.350+17T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.520+17T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*114+17T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.520+17T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1740+17T>C
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19710
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

3-130851672-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851672
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851672
    reference: chr 3
allele count: 27
allele frequency: 4.566982408660352e-4
allele num: 59120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.350+19T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.520+19T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.288+19T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.325+19T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.520+19T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.520+19T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1740+19T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.520+19T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.520+19T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.520+19T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.520+19T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.520+19T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*114+19T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.520+19T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.76+19T>A
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15848
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 19670
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

3-130851681-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851681
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851681
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 52470
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.520+28A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.76+28A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.520+28A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.288+28A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*114+28A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.520+28A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1740+28A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.520+28A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.350+28A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.520+28A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.325+28A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.520+28A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.520+28A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.520+28A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.520+28A>G
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-130851685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851685
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851685
    reference: chr 3
allele count: 3
allele frequency: 5.965637925548839e-5
allele num: 50288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.520+32C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.325+32C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.520+32C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1740+32C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.76+32C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.520+32C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*114+32C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.520+32C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.520+32C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.520+32C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.288+32C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.350+32C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.520+32C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.520+32C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.520+32C>T
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20280
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13006
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13570
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

3-130851686-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851686
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851686
    reference: chr 3
allele count: 11284
allele frequency: 2.267047052678105e-1
allele num: 49774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.520+33G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.350+33G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1740+33G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.520+33G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*114+33G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.520+33G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.520+33G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.325+33G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.520+33G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.520+33G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.520+33G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.288+33G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.76+33G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.520+33G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.520+33G>A
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12462
  bin: 2.5e0
  variant carriers: 686
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 1.75e1
  variant carriers: 2031
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.25e1
  variant carriers: 465
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 2.75e1
  variant carriers: 785
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 20510
  bin: 7.5e0
  variant carriers: 5460
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 209
genotype depth: GenotypeDepth
  all individuals: 13522
  bin: 1.25e1
  variant carriers: 4748
genotype quality: GenotypeQuality
num of homozygotes: 1138
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-130851687-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851687
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851687
    reference: chr 3
allele count: 18
allele frequency: 3.980011497810993e-4
allele num: 45226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.288+34C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.76+34C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.520+34C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.520+34C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*114+34C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.520+34C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1740+34C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.520+34C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.520+34C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.520+34C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.350+34C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.520+34C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.520+34C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.325+34C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.520+34C>G
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15765
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12894
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-130851688-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851688
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851688
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 44036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.76+35A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.520+35A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.325+35A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*114+35A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.520+35A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.520+35A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.288+35A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.520+35A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.520+35A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.520+35A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.350+35A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.520+35A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.520+35A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1740+35A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.520+35A>C
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16033
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

3-130851689-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851689
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851689
    reference: chr 3
allele count: 2
allele frequency: 4.551661356395084e-5
allele num: 43940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.520+36G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.350+36G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.520+36G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.520+36G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.288+36G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.520+36G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1740+36G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*114+36G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.520+36G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.520+36G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.520+36G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.76+36G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.520+36G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.325+36G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.520+36G>C
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12362
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20657
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/3-130851692-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851692
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851692
    reference: chr 3
allele count: 1
allele frequency: 2.370454653202484e-5
allele num: 42186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.520+39C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.520+39C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.325+39C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*114+39C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.520+39C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.520+39C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.76+39C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.520+39C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.350+39C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1740+39C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.520+39C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.520+39C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.520+39C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.520+39C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.288+39C>A
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11649
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

3-130851693-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851693
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851693
    reference: chr 3
allele count: 1
allele frequency: 2.460387757110521e-5
allele num: 40644
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1740+40A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.520+40A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.325+40A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.520+40A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.520+40A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.520+40A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.520+40A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.350+40A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.520+40A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.520+40A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.520+40A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.520+40A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*114+40A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.76+40A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.288+40A>G
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

3-130851694-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851694
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851694
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 40344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1740+41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.520+41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.350+41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.520+41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*114+41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.520+41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.520+41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.520+41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.520+41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.76+41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.520+41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.520+41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.520+41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.325+41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.288+41G>A
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16308
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

3-130851698-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851698
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851698
    reference: chr 3
allele count: 2
allele frequency: 5.303632988597189e-5
allele num: 37710
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.350+45A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.520+45A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.76+45A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.288+45A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.520+45A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1740+45A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*114+45A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.520+45A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.520+45A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.520+45A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.520+45A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.520+45A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.520+45A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.520+45A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.325+45A>G
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23007
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9513
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

3-130851701-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851701
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851701
    reference: chr 3
allele count: 3
allele frequency: 8.123036932741254e-5
allele num: 36932
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.325+48C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.76+48C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.520+48C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.520+48C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.520+48C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.520+48C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.520+48C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.350+48C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.520+48C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.520+48C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.520+48C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*114+48C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1740+48C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.520+48C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.288+48C>T
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16393
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23147
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9354
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

3-130851704-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130851704
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130851704
    reference: chr 3
allele count: 8
allele frequency: 2.22185191356996e-4
allele num: 36006
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.350+51G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.520+51G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.520+51G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.520+51G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1740+51G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.520+51G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.520+51G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.520+51G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.325+51G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.520+51G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.76+51G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.520+51G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*114+51G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.288+51G>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.520+51G>C
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9133
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23375
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

3-130852092-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852092
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852092
    reference: chr 3
allele count: 1
allele frequency: 9.300595238095238e-5
allele num: 10752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.520+439C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.520+439C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.520+439C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.76+439C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*114+439C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.328C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.520+439C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.520+439C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.288+439C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.521-29C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.520+439C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.520+439C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1740+439C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.520+439C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.350+439C>T
  variant of: http://identifiers.org/hgnc/18593
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.328C>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/3-130852133-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852133
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852133
    reference: chr 3
allele count: 1
allele frequency: 9.304056568663938e-5
allele num: 10748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.369C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.520+480C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.520+480C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.520+480C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.76+480C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.520+480C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.350+480C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.533C>A
  hgvsp: ENSP00000425662.1:p.Ser178Tyr
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.520+480C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.520+480C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.288+480C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.520+480C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*114+480C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.520+480C>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1740+480C>A
  variant of: http://identifiers.org/hgnc/18593
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser178Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

3-130852147-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852147
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852147
    reference: chr 3
allele count: 25
allele frequency: 2.327313349469372e-3
allele num: 10742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.520+494G>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.520+494G>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.547G>T
  hgvsp: ENSP00000425662.1:p.Gly183Trp
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.520+494G>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.383G>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.520+494G>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*114+494G>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.76+494G>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.350+494G>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.520+494G>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.520+494G>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1740+494G>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.520+494G>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.520+494G>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.288+494G>T
  variant of: http://identifiers.org/hgnc/18593
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Gly183Trp
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

3-130852158-GGGAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852158
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852154
    reference: chr 3
allele count: 24
allele frequency: 2.250140633789612e-3
allele num: 10666
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.521-499_521-496delGGAA
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.411_414delGGAA
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.521-499_521-496delGGAA
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.521-499_521-496delGGAA
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.521-499_521-496delGGAA
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.521-499_521-496delGGAA
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.575_578delGGAA
  hgvsp: ENSP00000425662.1:p.Arg192IlefsTer6
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.289-499_289-496delGGAA
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.521-499_521-496delGGAA
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.521-499_521-496delGGAA
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.351-499_351-496delGGAA
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.521-499_521-496delGGAA
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1741-499_1741-496delGGAA
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.77-499_77-496delGGAA
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*115-499_*115-496delGGAA
  variant of: http://identifiers.org/hgnc/18593
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg192IlefsTer6
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: GGGAA
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-130852180-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852180
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852180
    reference: chr 3
allele count: 1
allele frequency: 9.375585974123383e-5
allele num: 10666
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.521-494A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.521-494A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.580A>C
  hgvsp: ENSP00000425662.1:p.Lys194Gln
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.77-494A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.521-494A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.521-494A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1741-494A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.521-494A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.521-494A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.521-494A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.416A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*115-494A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.289-494A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.521-494A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.351-494A>C
  variant of: http://identifiers.org/hgnc/18593
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys194Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

3-130852185-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852185
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852185
    reference: chr 3
allele count: 8796
allele frequency: 8.194522079373951e-1
allele num: 10734
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.521-489T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*115-489T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.351-489T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.521-489T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.521-489T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.77-489T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.585T>C
  hgvsp: ENST00000514915.1:c.585T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.521-489T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1741-489T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.521-489T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.421T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.521-489T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.521-489T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.289-489T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.521-489T>C
  variant of: http://identifiers.org/hgnc/18593
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 2.75e1
  variant carriers: 786
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.25e1
  variant carriers: 407
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 808
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 185
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 2.5e0
  variant carriers: 541
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.25e1
  variant carriers: 939
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 510
genotype quality: GenotypeQuality
hgvs: p.Ser195Ser
num of homozygotes: 3612
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

3-130852186-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852186
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852186
    reference: chr 3
allele count: 2639
allele frequency: 2.520053475935829e-1
allele num: 10472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.521-488G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.77-488G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.521-488G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*115-488G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1741-488G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.422G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.521-488G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.521-488G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.289-488G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.586G>A
  hgvsp: ENSP00000425662.1:p.Val196Met
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.351-488G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.521-488G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.521-488G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.521-488G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.521-488G>A
  variant of: http://identifiers.org/hgnc/18593
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 2.25e1
  variant carriers: 226
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.25e1
  variant carriers: 474
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 2.5e0
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 327
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.75e1
  variant carriers: 412
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
hgvs: p.Val196Met
num of homozygotes: 339
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

3-130852212-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852212
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852212
    reference: chr 3
allele count: 4
allele frequency: 4.561003420752565e-4
allele num: 8770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1741-462A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.521-462A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.521-462A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.521-462A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.599+13A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.351-462A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.77-462A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.521-462A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*115-462A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.435+13A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.521-462A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.521-462A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.289-462A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.521-462A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.521-462A>G
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

3-130852623-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852623
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852623
    reference: chr 3
allele count: 2
allele frequency: 1.735628991946682e-5
allele num: 115232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1741-51C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.521-51C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.351-51C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*115-51C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.521-51C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.521-51C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.521-51C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.436-51C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.521-51C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.521-51C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.521-51C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.600-51C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.289-51C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.521-51C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.77-51C>T
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7785
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

3-130852629-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852629
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852629
    reference: chr 3
allele count: 3
allele frequency: 2.596323605774224e-5
allele num: 115548
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.521-45T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.77-45T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.521-45T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.521-45T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.600-45T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.521-45T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.289-45T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.436-45T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.521-45T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*115-45T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.351-45T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.521-45T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.521-45T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.521-45T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1741-45T>G
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8649
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-130852632-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852632
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852632
    reference: chr 3
allele count: 5
allele frequency: 4.335535785512374e-5
allele num: 115326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.436-42C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.351-42C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.521-42C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.521-42C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1741-42C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.77-42C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.521-42C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.521-42C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.600-42C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.289-42C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*115-42C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.521-42C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.521-42C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.521-42C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.521-42C>T
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10907
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

3-130852633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852633
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852633
    reference: chr 3
allele count: 5
allele frequency: 4.329304194229903e-5
allele num: 115492
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.521-41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.521-41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.521-41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.600-41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.351-41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.289-41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.436-41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.521-41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.521-41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.521-41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1741-41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.77-41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*115-41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.521-41G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.521-41G>A
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11394
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

3-130852644-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852644
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852644
    reference: chr 3
allele count: 96
allele frequency: 8.267452074613755e-4
allele num: 116118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.521-30G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.521-30G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.77-30G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*115-30G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.436-30G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.521-30G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.351-30G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.289-30G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1741-30G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.521-30G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.521-30G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.600-30G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.521-30G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.521-30G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.521-30G>A
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14657
  bin: 2.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

3-130852657-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852657
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852657
    reference: chr 3
allele count: 1
allele frequency: 8.528639170333982e-6
allele num: 117252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.521-17T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.521-17T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.521-17T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1741-17T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.521-17T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.77-17T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.436-17T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.289-17T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.351-17T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.521-17T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.521-17T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.600-17T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.521-17T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.521-17T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*115-17T>A
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

3-130852658-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852658
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852658
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 117386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.521-16T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.521-16T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.521-16T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.289-16T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.521-16T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.436-16T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.521-16T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.521-16T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.521-16T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.600-16T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.521-16T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.351-16T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.77-16T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1741-16T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*115-16T>A
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 17809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

3-130852658-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852658
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852658
    reference: chr 3
allele count: 1
allele frequency: 8.518903446748335e-6
allele num: 117386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.600-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.289-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.77-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.521-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*115-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.521-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.521-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.521-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.521-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.521-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.351-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.436-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1741-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.521-16T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.521-16T>G
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

3-130852659-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852659
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852659
    reference: chr 3
allele count: 1
allele frequency: 8.506873553831496e-6
allele num: 117552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.600-15A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.289-15A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.351-15A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.521-15A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.521-15A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.521-15A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.521-15A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1741-15A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.521-15A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.521-15A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.521-15A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.77-15A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*115-15A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.436-15A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.521-15A>G
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-130852661-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852661
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852661
    reference: chr 3
allele count: 2
allele frequency: 1.697389415079608e-5
allele num: 117828
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.521-13T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.521-13T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.436-13T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.351-13T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.289-13T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.521-13T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.521-13T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.77-13T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.521-13T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*115-13T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.521-13T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1741-13T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.600-13T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.521-13T>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.521-13T>G
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

3-130852664-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852664
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852664
    reference: chr 3
allele count: 1
allele frequency: 8.447658309116713e-6
allele num: 118376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.521-10T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.521-10T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.521-10T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.521-10T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.521-10T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.436-10T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*115-10T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.351-10T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.521-10T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.600-10T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1741-10T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.521-10T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.289-10T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.521-10T>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.77-10T>A
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

3-130852667-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852667
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852667
    reference: chr 3
allele count: 1
allele frequency: 8.406893652795292e-6
allele num: 118950
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.521-7T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.521-7T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*115-7T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.521-7T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.351-7T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.521-7T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.521-7T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.600-7T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.521-7T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1741-7T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.521-7T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.521-7T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.77-7T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.436-7T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.289-7T>C
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.521-7T>C
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/3-130852671-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852671
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852671
    reference: chr 3
allele count: 1
allele frequency: 8.350172848577966e-6
allele num: 119758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.521-3A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.436-3A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*115-3A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.521-3A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.521-3A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.521-3A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.600-3A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.351-3A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.289-3A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.521-3A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.521-3A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.521-3A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.77-3A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1741-3A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.521-3A>C
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.521-3A>C
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

3-130852689-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852689
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852689
    reference: chr 3
allele count: 1
allele frequency: 8.265692417053776e-6
allele num: 120982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.92C>G
  hgvsp: ENSP00000411888.2:p.Ser31Cys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*130C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.536C>G
  hgvsp: ENSP00000426662.1:p.Ser179Cys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.536C>G
  hgvsp: ENSP00000421851.1:p.Ser179Cys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1756C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.536C>G
  hgvsp: ENSP00000421549.1:p.Ser179Cys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.536C>G
  hgvsp: ENSP00000372857.4:p.Ser179Cys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.366C>G
  hgvsp: ENSP00000473422.1:p.Ser123Cys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.536C>G
  hgvsp: ENSP00000423458.1:p.Ser179Cys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.536C>G
  hgvsp: ENSP00000349389.4:p.Ser179Cys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.615C>G
  hgvsp: ENSP00000425662.1:p.Phe205Leu
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.304C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.536C>G
  hgvsp: ENSP00000425114.1:p.Ser179Cys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.451C>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.536C>G
  hgvsp: ENSP00000397180.2:p.Ser179Cys
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser179Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum

3-130852692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852692
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852692
    reference: chr 3
allele count: 4
allele frequency: 3.30392837083292e-5
allele num: 121068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.539G>A
  hgvsp: ENSP00000421549.1:p.Arg180Gln
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.369G>A
  hgvsp: ENSP00000473422.1:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1759G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.539G>A
  hgvsp: ENSP00000421851.1:p.Arg180Gln
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.539G>A
  hgvsp: ENSP00000397180.2:p.Arg180Gln
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.95G>A
  hgvsp: ENSP00000411888.2:p.Arg32Gln
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.539G>A
  hgvsp: ENSP00000426662.1:p.Arg180Gln
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.539G>A
  hgvsp: ENSP00000372857.4:p.Arg180Gln
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.539G>A
  hgvsp: ENSP00000423458.1:p.Arg180Gln
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.454G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.539G>A
  hgvsp: ENSP00000425114.1:p.Arg180Gln
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.618G>A
  hgvsp: ENST00000514915.1:c.618G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.307G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.539G>A
  hgvsp: ENSP00000349389.4:p.Arg180Gln
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*133G>A
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg180Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

3-130852700-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852700
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852700
    reference: chr 3
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.547A>G
  hgvsp: ENSP00000372857.4:p.Met183Val
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*141A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.462A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.626A>G
  hgvsp: ENSP00000425662.1:p.Asn209Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.547A>G
  hgvsp: ENSP00000397180.2:p.Met183Val
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.547A>G
  hgvsp: ENSP00000421851.1:p.Met183Val
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.377A>G
  hgvsp: ENSP00000473422.1:p.Met127Val
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.547A>G
  hgvsp: ENSP00000349389.4:p.Met183Val
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.547A>G
  hgvsp: ENSP00000423458.1:p.Met183Val
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1767A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.103A>G
  hgvsp: ENSP00000411888.2:p.Met35Val
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.547A>G
  hgvsp: ENSP00000426662.1:p.Met183Val
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.547A>G
  hgvsp: ENSP00000425114.1:p.Met183Val
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.547A>G
  hgvsp: ENSP00000421549.1:p.Met183Val
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.315A>G
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13095
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met183Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

3-130852702-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852702
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852702
    reference: chr 3
allele count: 5
allele frequency: 4.125548697976831e-5
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.379G>A
  hgvsp: ENSP00000473422.1:p.Met127Ile
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.549G>A
  hgvsp: ENSP00000421549.1:p.Met183Ile
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.549G>A
  hgvsp: ENSP00000421851.1:p.Met183Ile
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.549G>A
  hgvsp: ENSP00000372857.4:p.Met183Ile
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.628G>A
  hgvsp: ENSP00000425662.1:p.Gly210Arg
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*143G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.549G>A
  hgvsp: ENSP00000426662.1:p.Met183Ile
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.549G>A
  hgvsp: ENSP00000425114.1:p.Met183Ile
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.549G>A
  hgvsp: ENSP00000397180.2:p.Met183Ile
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.549G>A
  hgvsp: ENSP00000423458.1:p.Met183Ile
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.549G>A
  hgvsp: ENSP00000349389.4:p.Met183Ile
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.105G>A
  hgvsp: ENSP00000411888.2:p.Met35Ile
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1769G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.464G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.317G>A
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met183Ile
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

3-130852712-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852712
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852712
    reference: chr 3
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.474G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.559G>A
  hgvsp: ENSP00000425114.1:p.Asp187Asn
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1779G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.638G>A
  hgvsp: ENST00000514915.1:c.638G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.559G>A
  hgvsp: ENSP00000426662.1:p.Asp187Asn
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.389G>A
  hgvsp: ENSP00000473422.1:p.Asp131Asn
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.559G>A
  hgvsp: ENSP00000421851.1:p.Asp187Asn
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*153G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.559G>A
  hgvsp: ENSP00000372857.4:p.Asp187Asn
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.115G>A
  hgvsp: ENSP00000411888.2:p.Asp39Asn
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.559G>A
  hgvsp: ENSP00000421549.1:p.Asp187Asn
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.327G>A
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.559G>A
  hgvsp: ENSP00000349389.4:p.Asp187Asn
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.559G>A
  hgvsp: ENSP00000397180.2:p.Asp187Asn
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.559G>A
  hgvsp: ENSP00000423458.1:p.Asp187Asn
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp187Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-130852713-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852713
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852713
    reference: chr 3
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.560A>G
  hgvsp: ENSP00000426662.1:p.Asp187Gly
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.560A>G
  hgvsp: ENSP00000421851.1:p.Asp187Gly
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.560A>G
  hgvsp: ENSP00000421549.1:p.Asp187Gly
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*154A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1780A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.639A>G
  hgvsp: ENSP00000425662.1:p.Ter213TrpextTer15
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.116A>G
  hgvsp: ENSP00000411888.2:p.Asp39Gly
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.560A>G
  hgvsp: ENSP00000397180.2:p.Asp187Gly
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.560A>G
  hgvsp: ENSP00000372857.4:p.Asp187Gly
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.390A>G
  hgvsp: ENSP00000473422.1:p.Asp131Gly
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.560A>G
  hgvsp: ENSP00000425114.1:p.Asp187Gly
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.560A>G
  hgvsp: ENSP00000423458.1:p.Asp187Gly
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.475A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.328A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.560A>G
  hgvsp: ENSP00000349389.4:p.Asp187Gly
  variant of: http://identifiers.org/hgnc/18593
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter213TrpextTer15
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

3-130852723-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852723
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852723
    reference: chr 3
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.126A>G
  hgvsp: ENST00000412440.2:c.126A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.570A>G
  hgvsp: ENST00000510769.1:c.570A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.570A>G
  hgvsp: ENST00000511262.1:c.570A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*164A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.570A>G
  hgvsp: ENST00000507910.1:c.570A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.570A>G
  hgvsp: ENST00000508196.1:c.570A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.*10A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1790A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.570A>G
  hgvsp: ENST00000429253.2:c.570A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.570A>G
  hgvsp: ENST00000356918.4:c.570A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.400A>G
  hgvsp: ENST00000602792.1:c.400A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.570A>G
  hgvsp: ENST00000383366.4:c.570A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.338A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.485A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.570A>G
  hgvsp: ENST00000510688.1:c.570A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr190Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

3-130852725-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852725
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852725
    reference: chr 3
allele count: 13
allele frequency: 1.071599320770892e-4
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.572C>T
  hgvsp: ENSP00000397180.2:p.Thr191Ile
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.402C>T
  hgvsp: ENSP00000473422.1:p.Thr135Ile
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.572C>T
  hgvsp: ENSP00000425114.1:p.Thr191Ile
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.572C>T
  hgvsp: ENSP00000372857.4:p.Thr191Ile
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.572C>T
  hgvsp: ENSP00000421851.1:p.Thr191Ile
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.572C>T
  hgvsp: ENSP00000423458.1:p.Thr191Ile
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.572C>T
  hgvsp: ENSP00000426662.1:p.Thr191Ile
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.572C>T
  hgvsp: ENSP00000421549.1:p.Thr191Ile
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.572C>T
  hgvsp: ENSP00000349389.4:p.Thr191Ile
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.*12C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.340C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.128C>T
  hgvsp: ENSP00000411888.2:p.Thr43Ile
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1792C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*166C>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.487C>T
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr191Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

3-130852728-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852728
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852728
    reference: chr 3
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.131T>C
  hgvsp: ENSP00000411888.2:p.Leu44Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.575T>C
  hgvsp: ENSP00000421851.1:p.Leu192Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.405T>C
  hgvsp: ENSP00000473422.1:p.Leu136Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.575T>C
  hgvsp: ENSP00000397180.2:p.Leu192Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.575T>C
  hgvsp: ENSP00000425114.1:p.Leu192Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.575T>C
  hgvsp: ENSP00000423458.1:p.Leu192Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.343T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.575T>C
  hgvsp: ENSP00000421549.1:p.Leu192Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.575T>C
  hgvsp: ENSP00000349389.4:p.Leu192Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*169T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.*15T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.575T>C
  hgvsp: ENSP00000426662.1:p.Leu192Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.575T>C
  hgvsp: ENSP00000372857.4:p.Leu192Ser
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1795T>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.490T>C
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu192Ser
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

3-130852746-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852746
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852746
    reference: chr 3
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.593A>G
  hgvsp: ENSP00000349389.4:p.Tyr198Cys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.593A>G
  hgvsp: ENSP00000425114.1:p.Tyr198Cys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.593A>G
  hgvsp: ENSP00000421851.1:p.Tyr198Cys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.593A>G
  hgvsp: ENSP00000423458.1:p.Tyr198Cys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.593A>G
  hgvsp: ENSP00000397180.2:p.Tyr198Cys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.593A>G
  hgvsp: ENSP00000426662.1:p.Tyr198Cys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.508A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.*33A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.593A>G
  hgvsp: ENSP00000372857.4:p.Tyr198Cys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.593A>G
  hgvsp: ENSP00000421549.1:p.Tyr198Cys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*187A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.361A>G
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.423A>G
  hgvsp: ENSP00000473422.1:p.Tyr142Cys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.149A>G
  hgvsp: ENSP00000411888.2:p.Tyr50Cys
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1813A>G
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr198Cys
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD

3-130852746-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852746
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852746
    reference: chr 3
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425662
  ensembl transcript: ENST00000514915
  gene symbol: NEK11
  hgvsc: ENST00000514915.1:c.*33A>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000506695
  gene symbol: NEK11
  hgvsc: ENST00000506695.1:n.1813A>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000372857
  ensembl transcript: ENST00000383366
  gene symbol: NEK11
  hgvsc: ENST00000383366.4:c.593A>T
  hgvsp: ENSP00000372857.4:p.Tyr198Phe
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000426662
  ensembl transcript: ENST00000507910
  gene symbol: NEK11
  hgvsc: ENST00000507910.1:c.593A>T
  hgvsp: ENSP00000426662.1:p.Tyr198Phe
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000425114
  ensembl transcript: ENST00000511262
  gene symbol: NEK11
  hgvsc: ENST00000511262.1:c.593A>T
  hgvsp: ENSP00000425114.1:p.Tyr198Phe
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000473422
  ensembl transcript: ENST00000602792
  gene symbol: NEK11
  hgvsc: ENST00000602792.1:c.423A>T
  hgvsp: ENSP00000473422.1:p.Tyr142Phe
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000349389
  ensembl transcript: ENST00000356918
  gene symbol: NEK11
  hgvsc: ENST00000356918.4:c.593A>T
  hgvsp: ENSP00000349389.4:p.Tyr198Phe
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421851
  ensembl transcript: ENST00000508196
  gene symbol: NEK11
  hgvsc: ENST00000508196.1:c.593A>T
  hgvsp: ENSP00000421851.1:p.Tyr198Phe
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000411888
  ensembl transcript: ENST00000412440
  gene symbol: NEK11
  hgvsc: ENST00000412440.2:c.149A>T
  hgvsp: ENSP00000411888.2:p.Tyr50Phe
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000397180
  ensembl transcript: ENST00000429253
  gene symbol: NEK11
  hgvsc: ENST00000429253.2:c.593A>T
  hgvsp: ENSP00000397180.2:p.Tyr198Phe
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.593A>T
  hgvsp: ENSP00000423458.1:p.Tyr198Phe
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*187A>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000426022
  gene symbol: NEK11
  hgvsc: ENST00000426022.2:n.508A>T
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421549
  ensembl transcript: ENST00000510769
  gene symbol: NEK11
  hgvsc: ENST00000510769.1:c.593A>T
  hgvsp: ENSP00000421549.1:p.Tyr198Phe
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114670
  ensembl transcript: ENST00000510926
  gene symbol: NEK11
  hgvsc: ENST00000510926.1:n.361A>T
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr198Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-130852751-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130852751
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 130852751
    reference: chr 3
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000421192
  ensembl transcript: ENST00000510474
  gene symbol: NEK11
  hgvsc: ENST00000510474.1:c.*192A>C
  variant of: http://identifiers.org/hgnc/18593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114670
  ensembl protein: ENSP00000423458
  ensembl transcript: ENST00000510688
  gene symbol: NEK11
  hgvsc: ENST00000510688.1:c.598A>C
  hgvsp: ENSP00000423458.1:p.Ser200Arg
  variant of: http://identifiers.org/hgnc/18593
canonical: true
consequence: missense
filter: PASS
hgvs: p.Ser200Arg
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2591
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 459
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 700
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17769
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2079
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1954
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 346
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1856
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26796
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39980
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13190
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.413627367825841e-4
allele num: 7074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4942
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8720
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 1.047e1

FS
type: SiteQuality
SIO_000300: 6.276e0

VQSLOD
type: SiteQuality
SIO_000300: -2.039e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQ
type: SiteQuality
SIO_000300: 5.861e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-2

DP
type: SiteQuality
SIO_000300: 1.141519e6

GenotypeDepth
all individuals: 116
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1797
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7232
bin: 2.75e1
variant carriers: 7

GenotypeDepth
all individuals: 461
bin: 9.75e1
variant carriers: 6

GenotypeDepth
all individuals: 75
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 999
bin: 1.75e1
variant carriers: 20

GenotypeQuality
all individuals: 1501
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1882
bin: 9.75e1
variant carriers: 70

GenotypeQuality
all individuals: 269
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1749
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 17455
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1581
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 768
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28773
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 112
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 600
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 581
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 206
bin: 9.25e1
variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7216
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.501875468867217e-5
allele num: 13330
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.665245202558635e-4
allele num: 7504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 11
allele frequency: 2.191235059760956e-3
allele num: 5020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.127904353710805e-4
allele num: 8866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 68
allele frequency: 1.65016501650165e-3
allele num: 41208
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

DP
type: SiteQuality
SIO_000300: 1.166399e6

QD
type: SiteQuality
SIO_000300: 9.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-2

GenotypeDepth
all individuals: 49
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7347
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 456
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16579
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2379
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8900
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5020
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 41410
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7532
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.379310344827586e-4
allele num: 7250
num of homozygotes: 0

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

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

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.171851e6

MQRankSum
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SIO_000300: -1.111e0

FS
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SIO_000300: 2.527e0

InbreedingCoeff
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SIO_000300: -4.8e-3

BaseQRankSum
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SIO_000300: 1.33e-1

ReadPosRankSum
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SIO_000300: 7.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.855e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

QD
type: SiteQuality
SIO_000300: 1.509e1

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7482
num of homozygotes: 0

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

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

Other
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allele count: 1
allele frequency: 1.461988304093567e-3
allele num: 684
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 43356
num of homozygotes: 0

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

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

InbreedingCoeff
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SIO_000300: -3.0e-3

VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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QD
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ClippingRankSum
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FS
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SIO_000300: 0.0e0

MQ
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SIO_000300: 5.804e1

DP
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SIO_000300: 1.208405e6

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9222
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.299696440069911e-5
allele num: 43484
num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

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

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

DP
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SIO_000300: 1.210322e6

MQ
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SIO_000300: 6.0e1

VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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QD
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SIO_000300: 7.16e0

BaseQRankSum
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SIO_000300: -1.491e0

ReadPosRankSum
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SIO_000300: 2.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5170
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

South Asian
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allele num: 13604
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 43424
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9210
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
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DP
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QD
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ClippingRankSum
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

South Asian
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allele frequency: 2.948547840188707e-4
allele num: 13566
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 43310
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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MQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQ
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7222
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
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allele num: 42144
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South Asian
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African
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Latino
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Other
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European (Finnish)
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MQRankSum
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FS
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MQ
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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DP
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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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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European (Non-Finnish)
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allele num: 42130
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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QD
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MQ
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VQSLOD
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FS
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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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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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
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BaseQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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South Asian
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allele frequency: 2.420916720464816e-4
allele num: 12392
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InbreedingCoeff
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SIO_000300: -7.7e-3

ReadPosRankSum
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QD
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BaseQRankSum
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MQRankSum
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MQ
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FS
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VQSLOD
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DP
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ClippingRankSum
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SIO_000300: 9.82e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

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

European (Finnish)
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Other
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African
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Latino
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European (Non-Finnish)
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num of homozygotes: 0

South Asian
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DP
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MQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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VQSLOD
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QD
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ReadPosRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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South Asian
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Other
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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QD
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MQ
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DP
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ReadPosRankSum
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FS
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VQSLOD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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East Asian
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DP
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VQSLOD
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MQRankSum
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QD
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FS
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4090
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5088
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 23788
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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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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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.36e-2

QD
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MQ
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DP
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SIO_000300: 7.43975e5

FS
type: SiteQuality
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MQRankSum
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ClippingRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3338
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4774
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 4.401795932740558e-5
allele num: 22718
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 5.230125523012552e-4
allele num: 3824
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.31e-2

DP
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SIO_000300: 7.30785e5

FS
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ReadPosRankSum
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QD
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SIO_000300: 9.289999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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MQRankSum
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SIO_000300: 3.22e-1

BaseQRankSum
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SIO_000300: 1.2e0

ClippingRankSum
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SIO_000300: 5.55e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 100
allele frequency: 2.304147465437788e-1
allele num: 434
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East Asian
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allele count: 704
allele frequency: 1.883360085607277e-1
allele num: 3738
num of homozygotes: 39

African
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allele count: 1930
allele frequency: 3.80220646178093e-1
allele num: 5076
num of homozygotes: 333

European (Non-Finnish)
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allele count: 4524
allele frequency: 2.00977343402932e-1
allele num: 22510
num of homozygotes: 395

South Asian
type: Population
allele count: 2063
allele frequency: 2.035319652722968e-1
allele num: 10136
num of homozygotes: 184

European (Finnish)
type: Population
allele count: 899
allele frequency: 2.747555012224939e-1
allele num: 3272
num of homozygotes: 101

Latino
type: Population
allele count: 1064
allele frequency: 2.309027777777778e-1
allele num: 4608
num of homozygotes: 75

BaseQRankSum
type: SiteQuality
SIO_000300: -2.003e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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SIO_000300: 7.22498e5

MQ
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SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

VQSLOD
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.84e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

GenotypeDepth
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variant carriers: 9

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 1
allele frequency: 2.488800398208064e-4
allele num: 4018
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.525252525252525e-3
allele num: 396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 5.847383295975051e-4
allele num: 20522
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3350
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 2.100840336134454e-4
allele num: 9520
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African
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allele count: 2
allele frequency: 4.502476361999099e-4
allele num: 4442
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -9.56e-1

VQSLOD
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 1.14e0

DP
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SIO_000300: 6.61071e5

MQRankSum
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SIO_000300: -2.32e-1

QD
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SIO_000300: 1.561e1

ClippingRankSum
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SIO_000300: -1.01e-1

InbreedingCoeff
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SIO_000300: -2.66e-2

GenotypeDepth
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variant carriers: 1

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

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 19134
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.09051254089422e-4
allele num: 9170
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MQ
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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DP
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FS
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 18350
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African
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Latino
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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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East Asian
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South Asian
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ReadPosRankSum
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DP
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ClippingRankSum
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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allele frequency: 0.0e0
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African
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East Asian
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European (Finnish)
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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ReadPosRankSum
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MQ
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MQRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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FS
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VQSLOD
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QD
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

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

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

South Asian
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allele frequency: 1.333333333333333e-4
allele num: 7500
num of homozygotes: 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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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SIO_000300: -5.84e-1

InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 2720
num of homozygotes: 0

African
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allele frequency: 5.319148936170213e-3
allele num: 188
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

DP
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SIO_000300: 2.07636e5

VQSLOD
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ReadPosRankSum
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ClippingRankSum
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QD
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FS
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BaseQRankSum
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MQRankSum
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -3.65e-2

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2714
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 2.173913043478261e-2
allele num: 92
num of homozygotes: 0

South Asian
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allele count: 23
allele frequency: 3.067484662576687e-3
allele num: 7498
num of homozygotes: 1

InbreedingCoeff
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SIO_000300: -3.26e-2

VQSLOD
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FS
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SIO_000300: 0.0e0

MQRankSum
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QD
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SIO_000300: 1.39e1

ClippingRankSum
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SIO_000300: 2.29e-1

BaseQRankSum
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SIO_000300: -9.54e-1

MQ
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SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.81e-1

DP
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SIO_000300: 2.07291e5

GenotypeDepth
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variant carriers: 4

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

European (Non-Finnish)
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allele count: 7
allele frequency: 2.609992542878449e-3
allele num: 2682
num of homozygotes: 0

African
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allele count: 1
allele frequency: 5.376344086021506e-3
allele num: 186
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
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: 16
allele frequency: 2.144772117962467e-3
allele num: 7460
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BaseQRankSum
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SIO_000300: 8.139999999999999e-1

MQRankSum
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SIO_000300: -9.85e-1

QD
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SIO_000300: 1.7e-1

ReadPosRankSum
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FS
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VQSLOD
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DP
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InbreedingCoeff
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SIO_000300: -3.76e-2

MQ
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SIO_000300: 5.887e1

ClippingRankSum
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SIO_000300: -1.4e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
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South Asian
type: Population
allele count: 1
allele frequency: 1.341201716738197e-4
allele num: 7456
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MQ
type: SiteQuality
SIO_000300: 5.526e1

ReadPosRankSum
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SIO_000300: 1.8e-2

DP
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BaseQRankSum
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QD
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SIO_000300: 1.423e1

FS
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SIO_000300: 2.078e0

ClippingRankSum
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InbreedingCoeff
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SIO_000300: -3.11e-2

MQRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 211

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 117

East Asian
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allele count: 109
allele frequency: 8.257575757575758e-1
allele num: 132
num of homozygotes: 45

Other
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South Asian
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allele count: 6246
allele frequency: 8.339118825100134e-1
allele num: 7490
num of homozygotes: 2611

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

Latino
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allele count: 83
allele frequency: 9.021739130434783e-1
allele num: 92
num of homozygotes: 38

African
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allele count: 157
allele frequency: 8.263157894736842e-1
allele num: 190
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European (Non-Finnish)
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allele count: 2105
allele frequency: 7.761799410029498e-1
allele num: 2712
num of homozygotes: 815

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e-1

VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -6.8e-2

MQ
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SIO_000300: 5.957e1

DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 19

Other
type: Population
allele count: 33
allele frequency: 2.844827586206897e-1
allele num: 116
num of homozygotes: 5

Latino
type: Population
allele count: 34
allele frequency: 3.695652173913043e-1
allele num: 92
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East Asian
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allele count: 75
allele frequency: 5.681818181818182e-1
allele num: 132
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African
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allele count: 81
allele frequency: 4.354838709677419e-1
allele num: 186
num of homozygotes: 20

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

South Asian
type: Population
allele count: 1921
allele frequency: 2.617879531207413e-1
allele num: 7338
num of homozygotes: 243

European (Non-Finnish)
type: Population
allele count: 495
allele frequency: 1.898006134969325e-1
allele num: 2608
num of homozygotes: 46

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 1.27e-1

DP
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QD
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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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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Other
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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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FS
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QD
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ReadPosRankSum
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MQRankSum
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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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European (Non-Finnish)
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European (Finnish)
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African
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East Asian
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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FS
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MQRankSum
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VQSLOD
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QD
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MQ
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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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South Asian
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European (Non-Finnish)
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Latino
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Other
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African
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East Asian
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VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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African
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QD
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MQRankSum
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DP
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FS
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeDepth
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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MQ
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FS
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QD
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ReadPosRankSum
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MQRankSum
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VQSLOD
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DP
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ClippingRankSum
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East Asian
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African
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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FS
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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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MQRankSum
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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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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European (Finnish)
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Other
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DP
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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South Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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QD
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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Other
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East Asian
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South Asian
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QD
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InbreedingCoeff
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FS
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MQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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South Asian
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European (Finnish)
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Other
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DP
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FS
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QD
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MQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele num: 64986
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East Asian
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African
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South Asian
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European (Finnish)
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Latino
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BaseQRankSum
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FS
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VQSLOD
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DP
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Finnish)
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Other
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European (Non-Finnish)
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Latino
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East Asian
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VQSLOD
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MQRankSum
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DP
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FS
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.524390243902439e-5
allele num: 65600
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South Asian
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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

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

Other
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -7.0e-4

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

South Asian
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allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.514279657167086e-5
allele num: 66038
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 1.45e0

QD
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MQ
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SIO_000300: 5.566e1

FS
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ClippingRankSum
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SIO_000300: 4.24e-1

VQSLOD
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ReadPosRankSum
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SIO_000300: -5.46e-1

InbreedingCoeff
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SIO_000300: 1.8e-3

MQRankSum
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DP
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SIO_000300: 1.939757e6

GenotypeDepth
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variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-2

BaseQRankSum
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SIO_000300: 2.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

ClippingRankSum
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SIO_000300: 1.32e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
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SIO_000300: 1.298e0

InbreedingCoeff
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SIO_000300: 1.09e-2

DP
type: SiteQuality
SIO_000300: 1.953662e6

QD
type: SiteQuality
SIO_000300: 1.428e1

MQRankSum
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SIO_000300: 6.0e-3

GenotypeDepth
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variant carriers: 0

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

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

African
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allele count: 2
allele frequency: 1.945903872348706e-4
allele num: 10278
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.001831116981359e-5
allele num: 66626
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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DP
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SIO_000300: 1.954938e6

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

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10342
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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Other
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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FS
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MQ
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ClippingRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10386
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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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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num of homozygotes: 0

MQRankSum
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DP
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MQ
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BaseQRankSum
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InbreedingCoeff
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QD
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FS
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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SIO_000300: -7.02e-1

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

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

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

Latino
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allele frequency: 8.658008658008658e-5
allele num: 11550
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Other
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East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

DP
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MQ
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ReadPosRankSum
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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SIO_000300: 1.17e-1

QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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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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European (Non-Finnish)
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allele count: 1
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allele num: 66704
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VQSLOD
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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SIO_000300: -1.809e0

ClippingRankSum
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FS
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SIO_000300: 0.0e0

MQ
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SIO_000300: 5.923e1

QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 4
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allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.049412329095706e-4
allele num: 66704
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African
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allele num: 10396
num of homozygotes: 0

European (Finnish)
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allele count: 0
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num of homozygotes: 0

Latino
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allele frequency: 8.659508139937652e-5
allele num: 11548
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Other
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East Asian
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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BaseQRankSum
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QD
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FS
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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South Asian
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European (Non-Finnish)
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European (Finnish)
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East Asian
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ReadPosRankSum
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FS
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MQ
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QD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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East Asian
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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DP
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 1.4833e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.65e0

QD
type: SiteQuality
SIO_000300: 1.19e1

GenotypeDepth
all individuals: 134
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20484
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 431
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1356
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 621
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 585
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3197
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2209
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3112
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6572
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22630
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13893
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4196
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4785
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 1.4833e1

DP
type: SiteQuality
SIO_000300: 1.958915e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.65e0

VQSLOD
type: SiteQuality
SIO_000300: -2.111e0

MQRankSum
type: SiteQuality
SIO_000300: 7.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.19e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.34e-1