19-55597383-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55597383
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55597383
    reference: chr 19
allele count: 1
allele frequency: 8.471704506946798e-6
allele num: 118040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000466245
  ensembl transcript: ENST00000588359
  gene symbol: EPS8L1
  hgvsc: ENST00000588359.1:c.576+42C>G
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000466828
  ensembl transcript: ENST00000586329
  gene symbol: EPS8L1
  hgvsc: ENST00000586329.1:c.1560+42C>G
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000589362
  gene symbol: EPS8L1
  hgvsc: ENST00000589362.1:n.867+42C>G
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000437541
  ensembl transcript: ENST00000540810
  gene symbol: EPS8L1
  hgvsc: ENST00000540810.1:c.1326+42C>G
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000201647
  ensembl transcript: ENST00000201647
  gene symbol: EPS8L1
  hgvsc: ENST00000201647.6:c.1518+42C>G
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000589694
  gene symbol: EPS8L1
  hgvsc: ENST00000589694.1:n.279+42C>G
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000585347
  gene symbol: EPS8L1
  hgvsc: ENST00000585347.1:n.311+42C>G
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000592102
  gene symbol: EPS8L1
  hgvsc: ENST00000592102.1:n.1014+42C>G
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000245618
  ensembl transcript: ENST00000245618
  gene symbol: EPS8L1
  hgvsc: ENST00000245618.5:c.1137+42C>G
  variant of: http://identifiers.org/hgnc/21295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-35592897-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35592897
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35592897
    reference: chr 14
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.446C>T
  hgvsp: ENSP00000324697.8:p.Ala149Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.446C>T
  hgvsp: ENSP00000454657.1:p.Ala149Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.161C>T
  hgvsp: ENSP00000250377.7:p.Ala54Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.446C>T
  hgvsp: ENSP00000473856.1:p.Ala149Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-602C>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.446C>T
  hgvsp: ENSP00000440915.2:p.Ala149Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.161C>T
  hgvsp: ENSP00000474620.1:p.Ala54Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+781C>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+781C>T
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala149Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

14-35592906-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35592906
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35592907
    reference: chr 14
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.456dupT
  hgvsp: ENSP00000324697.8:p.Ser153Ter
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.171dupT
  hgvsp: ENSP00000474620.1:p.Ser58Ter
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+791dupT
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.171dupT
  hgvsp: ENSP00000250377.7:p.Ser58Ter
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+791dupT
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.456dupT
  hgvsp: ENSP00000473856.1:p.Ser153Ter
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.456dupT
  hgvsp: ENSP00000454657.1:p.Ser153Ter
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-592dupT
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.456dupT
  hgvsp: ENSP00000440915.2:p.Ser153Ter
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser153Ter
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

19-55597392-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55597392
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55597392
    reference: chr 19
allele count: 2
allele frequency: 1.701635271495907e-5
allele num: 117534
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000585347
  gene symbol: EPS8L1
  hgvsc: ENST00000585347.1:n.312-37G>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000201647
  ensembl transcript: ENST00000201647
  gene symbol: EPS8L1
  hgvsc: ENST00000201647.6:c.1519-37G>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000437541
  ensembl transcript: ENST00000540810
  gene symbol: EPS8L1
  hgvsc: ENST00000540810.1:c.1327-37G>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000466245
  ensembl transcript: ENST00000588359
  gene symbol: EPS8L1
  hgvsc: ENST00000588359.1:c.577-37G>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000589694
  gene symbol: EPS8L1
  hgvsc: ENST00000589694.1:n.280-37G>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000466828
  ensembl transcript: ENST00000586329
  gene symbol: EPS8L1
  hgvsc: ENST00000586329.1:c.1560+51G>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000245618
  ensembl transcript: ENST00000245618
  gene symbol: EPS8L1
  hgvsc: ENST00000245618.5:c.1138-37G>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000589362
  gene symbol: EPS8L1
  hgvsc: ENST00000589362.1:n.868-37G>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000592102
  gene symbol: EPS8L1
  hgvsc: ENST00000592102.1:n.1015-37G>C
  variant of: http://identifiers.org/hgnc/21295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

19-55597401-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55597401
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55597401
    reference: chr 19
allele count: 1
allele frequency: 8.550224015869215e-6
allele num: 116956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000466245
  ensembl transcript: ENST00000588359
  gene symbol: EPS8L1
  hgvsc: ENST00000588359.1:c.577-28T>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000437541
  ensembl transcript: ENST00000540810
  gene symbol: EPS8L1
  hgvsc: ENST00000540810.1:c.1327-28T>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000585347
  gene symbol: EPS8L1
  hgvsc: ENST00000585347.1:n.312-28T>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000589694
  gene symbol: EPS8L1
  hgvsc: ENST00000589694.1:n.280-28T>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000466828
  ensembl transcript: ENST00000586329
  gene symbol: EPS8L1
  hgvsc: ENST00000586329.1:c.1560+60T>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000245618
  ensembl transcript: ENST00000245618
  gene symbol: EPS8L1
  hgvsc: ENST00000245618.5:c.1138-28T>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000201647
  ensembl transcript: ENST00000201647
  gene symbol: EPS8L1
  hgvsc: ENST00000201647.6:c.1519-28T>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000592102
  gene symbol: EPS8L1
  hgvsc: ENST00000592102.1:n.1015-28T>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000589362
  gene symbol: EPS8L1
  hgvsc: ENST00000589362.1:n.868-28T>C
  variant of: http://identifiers.org/hgnc/21295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

19-55597415-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55597415
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55597415
    reference: chr 19
allele count: 1
allele frequency: 8.583985716247769e-6
allele num: 116496
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000466828
  ensembl transcript: ENST00000586329
  gene symbol: EPS8L1
  hgvsc: ENST00000586329.1:c.1560+74T>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000592102
  gene symbol: EPS8L1
  hgvsc: ENST00000592102.1:n.1015-14T>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000466245
  ensembl transcript: ENST00000588359
  gene symbol: EPS8L1
  hgvsc: ENST00000588359.1:c.577-14T>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000589694
  gene symbol: EPS8L1
  hgvsc: ENST00000589694.1:n.280-14T>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000437541
  ensembl transcript: ENST00000540810
  gene symbol: EPS8L1
  hgvsc: ENST00000540810.1:c.1327-14T>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000245618
  ensembl transcript: ENST00000245618
  gene symbol: EPS8L1
  hgvsc: ENST00000245618.5:c.1138-14T>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000589362
  gene symbol: EPS8L1
  hgvsc: ENST00000589362.1:n.868-14T>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000201647
  ensembl transcript: ENST00000201647
  gene symbol: EPS8L1
  hgvsc: ENST00000201647.6:c.1519-14T>C
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000585347
  gene symbol: EPS8L1
  hgvsc: ENST00000585347.1:n.312-14T>C
  variant of: http://identifiers.org/hgnc/21295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22476
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

19-55597419-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55597419
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55597419
    reference: chr 19
allele count: 1
allele frequency: 8.596087061169755e-6
allele num: 116332
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000201647
  ensembl transcript: ENST00000201647
  gene symbol: EPS8L1
  hgvsc: ENST00000201647.6:c.1519-10C>T
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000245618
  ensembl transcript: ENST00000245618
  gene symbol: EPS8L1
  hgvsc: ENST00000245618.5:c.1138-10C>T
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000585347
  gene symbol: EPS8L1
  hgvsc: ENST00000585347.1:n.312-10C>T
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000437541
  ensembl transcript: ENST00000540810
  gene symbol: EPS8L1
  hgvsc: ENST00000540810.1:c.1327-10C>T
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000466245
  ensembl transcript: ENST00000588359
  gene symbol: EPS8L1
  hgvsc: ENST00000588359.1:c.577-10C>T
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000589362
  gene symbol: EPS8L1
  hgvsc: ENST00000589362.1:n.868-10C>T
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000592102
  gene symbol: EPS8L1
  hgvsc: ENST00000592102.1:n.1015-10C>T
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000589694
  gene symbol: EPS8L1
  hgvsc: ENST00000589694.1:n.280-10C>T
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000466828
  ensembl transcript: ENST00000586329
  gene symbol: EPS8L1
  hgvsc: ENST00000586329.1:c.1560+78C>T
  variant of: http://identifiers.org/hgnc/21295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5036
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

19-55597424-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55597424
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55597424
    reference: chr 19
allele count: 1
allele frequency: 8.609556607834696e-6
allele num: 116150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000245618
  ensembl transcript: ENST00000245618
  gene symbol: EPS8L1
  hgvsc: ENST00000245618.5:c.1138-5C>T
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000585347
  gene symbol: EPS8L1
  hgvsc: ENST00000585347.1:n.312-5C>T
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000437541
  ensembl transcript: ENST00000540810
  gene symbol: EPS8L1
  hgvsc: ENST00000540810.1:c.1327-5C>T
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000589362
  gene symbol: EPS8L1
  hgvsc: ENST00000589362.1:n.868-5C>T
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000589694
  gene symbol: EPS8L1
  hgvsc: ENST00000589694.1:n.280-5C>T
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000592102
  gene symbol: EPS8L1
  hgvsc: ENST00000592102.1:n.1015-5C>T
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000201647
  ensembl transcript: ENST00000201647
  gene symbol: EPS8L1
  hgvsc: ENST00000201647.6:c.1519-5C>T
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000466245
  ensembl transcript: ENST00000588359
  gene symbol: EPS8L1
  hgvsc: ENST00000588359.1:c.577-5C>T
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000466828
  ensembl transcript: ENST00000586329
  gene symbol: EPS8L1
  hgvsc: ENST00000586329.1:c.1560+83C>T
  variant of: http://identifiers.org/hgnc/21295
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1519-5C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

19-55597431-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55597431
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55597431
    reference: chr 19
allele count: 1
allele frequency: 8.62083829031535e-6
allele num: 115998
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000245618
  ensembl transcript: ENST00000245618
  gene symbol: EPS8L1
  hgvsc: ENST00000245618.5:c.1140C>T
  hgvsp: ENST00000245618.5:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000437541
  ensembl transcript: ENST00000540810
  gene symbol: EPS8L1
  hgvsc: ENST00000540810.1:c.1329C>T
  hgvsp: ENST00000540810.1:c.1329C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000589694
  gene symbol: EPS8L1
  hgvsc: ENST00000589694.1:n.282C>T
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000466245
  ensembl transcript: ENST00000588359
  gene symbol: EPS8L1
  hgvsc: ENST00000588359.1:c.579C>T
  hgvsp: ENST00000588359.1:c.579C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000592102
  gene symbol: EPS8L1
  hgvsc: ENST00000592102.1:n.1017C>T
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000589362
  gene symbol: EPS8L1
  hgvsc: ENST00000589362.1:n.870C>T
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000466828
  ensembl transcript: ENST00000586329
  gene symbol: EPS8L1
  hgvsc: ENST00000586329.1:c.1560+90C>T
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000585347
  gene symbol: EPS8L1
  hgvsc: ENST00000585347.1:n.314C>T
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000201647
  ensembl transcript: ENST00000201647
  gene symbol: EPS8L1
  hgvsc: ENST00000201647.6:c.1521C>T
  hgvsp: ENST00000201647.6:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21295
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9820
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1521C>T
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-55597442-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55597442
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55597442
    reference: chr 19
allele count: 1
allele frequency: 8.625299729165588e-6
allele num: 115938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000592102
  gene symbol: EPS8L1
  hgvsc: ENST00000592102.1:n.1028G>A
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000245618
  ensembl transcript: ENST00000245618
  gene symbol: EPS8L1
  hgvsc: ENST00000245618.5:c.1151G>A
  hgvsp: ENSP00000245618.4:p.Ser384Asn
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000589694
  gene symbol: EPS8L1
  hgvsc: ENST00000589694.1:n.293G>A
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000466245
  ensembl transcript: ENST00000588359
  gene symbol: EPS8L1
  hgvsc: ENST00000588359.1:c.590G>A
  hgvsp: ENSP00000466245.1:p.Ser197Asn
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000466828
  ensembl transcript: ENST00000586329
  gene symbol: EPS8L1
  hgvsc: ENST00000586329.1:c.1560+101G>A
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000585347
  gene symbol: EPS8L1
  hgvsc: ENST00000585347.1:n.325G>A
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000201647
  ensembl transcript: ENST00000201647
  gene symbol: EPS8L1
  hgvsc: ENST00000201647.6:c.1532G>A
  hgvsp: ENSP00000201647.5:p.Ser511Asn
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000589362
  gene symbol: EPS8L1
  hgvsc: ENST00000589362.1:n.881G>A
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000437541
  ensembl transcript: ENST00000540810
  gene symbol: EPS8L1
  hgvsc: ENST00000540810.1:c.1340G>A
  hgvsp: ENSP00000437541.1:p.Ser447Asn
  variant of: http://identifiers.org/hgnc/21295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4319
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4082
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser511Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

19-55597445-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55597445
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55597445
    reference: chr 19
allele count: 3
allele frequency: 2.588438308886972e-5
allele num: 115900
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000201647
  ensembl transcript: ENST00000201647
  gene symbol: EPS8L1
  hgvsc: ENST00000201647.6:c.1535G>A
  hgvsp: ENSP00000201647.5:p.Arg512His
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000585347
  gene symbol: EPS8L1
  hgvsc: ENST00000585347.1:n.328G>A
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000466828
  ensembl transcript: ENST00000586329
  gene symbol: EPS8L1
  hgvsc: ENST00000586329.1:c.1560+104G>A
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000466245
  ensembl transcript: ENST00000588359
  gene symbol: EPS8L1
  hgvsc: ENST00000588359.1:c.593G>A
  hgvsp: ENSP00000466245.1:p.Arg198His
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000589694
  gene symbol: EPS8L1
  hgvsc: ENST00000589694.1:n.296G>A
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000245618
  ensembl transcript: ENST00000245618
  gene symbol: EPS8L1
  hgvsc: ENST00000245618.5:c.1154G>A
  hgvsp: ENSP00000245618.4:p.Arg385His
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131037
  ensembl protein: ENSP00000437541
  ensembl transcript: ENST00000540810
  gene symbol: EPS8L1
  hgvsc: ENST00000540810.1:c.1343G>A
  hgvsp: ENSP00000437541.1:p.Arg448His
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000589362
  gene symbol: EPS8L1
  hgvsc: ENST00000589362.1:n.884G>A
  variant of: http://identifiers.org/hgnc/21295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131037
  ensembl transcript: ENST00000592102
  gene symbol: EPS8L1
  hgvsc: ENST00000592102.1:n.1031G>A
  variant of: http://identifiers.org/hgnc/21295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8044
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg512His
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

14-35592909-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35592909
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35592909
    reference: chr 14
allele count: 2
allele frequency: 1.650682557237418e-5
allele num: 121162
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-590G>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.458G>C
  hgvsp: ENSP00000324697.8:p.Ser153Thr
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.173G>C
  hgvsp: ENSP00000250377.7:p.Ser58Thr
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.458G>C
  hgvsp: ENSP00000440915.2:p.Ser153Thr
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+793G>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.458G>C
  hgvsp: ENSP00000473856.1:p.Ser153Thr
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.458G>C
  hgvsp: ENSP00000454657.1:p.Ser153Thr
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+793G>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.173G>C
  hgvsp: ENSP00000474620.1:p.Ser58Thr
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser153Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

14-35592914-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35592914
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35592914
    reference: chr 14
allele count: 3
allele frequency: 2.475492623031983e-5
allele num: 121188
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.463A>G
  hgvsp: ENSP00000440915.2:p.Ile155Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+798A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-585A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.178A>G
  hgvsp: ENSP00000250377.7:p.Ile60Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.178A>G
  hgvsp: ENSP00000474620.1:p.Ile60Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.463A>G
  hgvsp: ENSP00000473856.1:p.Ile155Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+798A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.463A>G
  hgvsp: ENSP00000324697.8:p.Ile155Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.463A>G
  hgvsp: ENSP00000454657.1:p.Ile155Val
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile155Val
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

14-35592916-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35592916
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35592916
    reference: chr 14
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.465A>G
  hgvsp: ENSP00000473856.1:p.Ile155Met
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.465A>G
  hgvsp: ENSP00000454657.1:p.Ile155Met
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.465A>G
  hgvsp: ENSP00000440915.2:p.Ile155Met
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+800A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.180A>G
  hgvsp: ENSP00000250377.7:p.Ile60Met
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+800A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.180A>G
  hgvsp: ENSP00000474620.1:p.Ile60Met
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.465A>G
  hgvsp: ENSP00000324697.8:p.Ile155Met
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-583A>G
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile155Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

14-35592922-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35592922
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35592922
    reference: chr 14
allele count: 79
allele frequency: 6.518259377217446e-4
allele num: 121198
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.471G>A
  hgvsp: ENST00000534898.4:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.471G>A
  hgvsp: ENST00000603544.1:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+806G>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.186G>A
  hgvsp: ENST00000604948.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.471G>A
  hgvsp: ENST00000557565.1:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.471G>A
  hgvsp: ENST00000321130.10:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+806G>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-577G>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.186G>A
  hgvsp: ENST00000250377.7:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 9.75e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val157Val
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

14-35592954-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35592954
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35592954
    reference: chr 14
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.218A>G
  hgvsp: ENSP00000250377.7:p.Lys73Arg
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.503A>G
  hgvsp: ENSP00000473856.1:p.Lys168Arg
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.503A>G
  hgvsp: ENSP00000454657.1:p.Lys168Arg
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.503A>G
  hgvsp: ENSP00000324697.8:p.Lys168Arg
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+838A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-545A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.218A>G
  hgvsp: ENSP00000474620.1:p.Lys73Arg
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.503A>G
  hgvsp: ENSP00000440915.2:p.Lys168Arg
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+838A>G
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys168Arg
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

14-35592961-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35592961
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35592961
    reference: chr 14
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.510T>C
  hgvsp: ENST00000321130.10:c.510T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.510T>C
  hgvsp: ENST00000603544.1:c.510T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.225T>C
  hgvsp: ENST00000604948.1:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.510T>C
  hgvsp: ENST00000557565.1:c.510T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-538T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+845T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.510T>C
  hgvsp: ENST00000534898.4:c.510T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+845T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.225T>C
  hgvsp: ENST00000250377.7:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn170Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-35592964-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35592964
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35592964
    reference: chr 14
allele count: 3
allele frequency: 2.472839974282464e-5
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.513T>C
  hgvsp: ENST00000321130.10:c.513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-535T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.513T>C
  hgvsp: ENST00000557565.1:c.513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.228T>C
  hgvsp: ENST00000604948.1:c.228T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.513T>C
  hgvsp: ENST00000603544.1:c.513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.228T>C
  hgvsp: ENST00000250377.7:c.228T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.513T>C
  hgvsp: ENST00000534898.4:c.513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+848T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+848T>C
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly171Gly
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-35592976-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35592976
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35592976
    reference: chr 14
allele count: 16
allele frequency: 1.318674073219378e-4
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.525C>T
  hgvsp: ENST00000321130.10:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+860C>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+860C>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.240C>T
  hgvsp: ENST00000250377.7:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-523C>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.525C>T
  hgvsp: ENST00000603544.1:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.240C>T
  hgvsp: ENST00000604948.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.525C>T
  hgvsp: ENST00000557565.1:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.525C>T
  hgvsp: ENST00000534898.4:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr175Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-35593007-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593007
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593006
    reference: chr 14
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+892delT
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.557delT
  hgvsp: ENSP00000324697.8:p.Val186AlafsTer16
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.272delT
  hgvsp: ENSP00000474620.1:p.Val91AlafsTer16
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.557delT
  hgvsp: ENSP00000454657.1:p.Val186AlafsTer16
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-491delT
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.557delT
  hgvsp: ENSP00000440915.2:p.Val186AlafsTer16
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.557delT
  hgvsp: ENSP00000473856.1:p.Val186AlafsTer16
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+892delT
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.272delT
  hgvsp: ENSP00000250377.7:p.Val91AlafsTer16
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28893
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val186AlafsTer16
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: GT
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

14-35593010-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593010
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593010
    reference: chr 14
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.274T>C
  hgvsp: ENSP00000474620.1:p.Phe92Leu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.559T>C
  hgvsp: ENSP00000324697.8:p.Phe187Leu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.274T>C
  hgvsp: ENSP00000250377.7:p.Phe92Leu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.559T>C
  hgvsp: ENSP00000454657.1:p.Phe187Leu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-489T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.559T>C
  hgvsp: ENSP00000473856.1:p.Phe187Leu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+894T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.559T>C
  hgvsp: ENSP00000440915.2:p.Phe187Leu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+894T>C
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14126
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe187Leu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS

14-35593014-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593014
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593014
    reference: chr 14
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+898A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.278A>G
  hgvsp: ENSP00000474620.1:p.His93Arg
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+898A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.563A>G
  hgvsp: ENSP00000454657.1:p.His188Arg
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.563A>G
  hgvsp: ENSP00000324697.8:p.His188Arg
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.278A>G
  hgvsp: ENSP00000250377.7:p.His93Arg
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.563A>G
  hgvsp: ENSP00000473856.1:p.His188Arg
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.563A>G
  hgvsp: ENSP00000440915.2:p.His188Arg
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-485A>G
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His188Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-35593019-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593019
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593018
    reference: chr 14
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.284delA
  hgvsp: ENSP00000250377.7:p.Gln95ArgfsTer12
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-479delA
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+904delA
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.569delA
  hgvsp: ENSP00000324697.8:p.Gln190ArgfsTer12
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.569delA
  hgvsp: ENSP00000454657.1:p.Gln190ArgfsTer12
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.569delA
  hgvsp: ENSP00000473856.1:p.Gln190ArgfsTer12
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.284delA
  hgvsp: ENSP00000474620.1:p.Gln95ArgfsTer12
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+904delA
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.569delA
  hgvsp: ENSP00000440915.2:p.Gln190ArgfsTer12
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln190ArgfsTer12
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: CA
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

14-35593026-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593026
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593026
    reference: chr 14
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.575C>T
  hgvsp: ENSP00000454657.1:p.Ser192Phe
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.575C>T
  hgvsp: ENSP00000473856.1:p.Ser192Phe
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.575C>T
  hgvsp: ENSP00000324697.8:p.Ser192Phe
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.290C>T
  hgvsp: ENSP00000474620.1:p.Ser97Phe
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.575C>T
  hgvsp: ENSP00000440915.2:p.Ser192Phe
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-473C>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+910C>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.290C>T
  hgvsp: ENSP00000250377.7:p.Ser97Phe
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+910C>T
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser192Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

14-35593030-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593030
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593030
    reference: chr 14
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.579A>G
  hgvsp: ENST00000534898.4:c.579A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.579A>G
  hgvsp: ENST00000603544.1:c.579A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.579A>G
  hgvsp: ENST00000557565.1:c.579A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.294A>G
  hgvsp: ENST00000604948.1:c.294A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+914A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+914A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.579A>G
  hgvsp: ENST00000321130.10:c.579A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-469A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.294A>G
  hgvsp: ENST00000250377.7:c.294A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu193Glu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-35593033-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593033
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593033
    reference: chr 14
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.297T>C
  hgvsp: ENST00000604948.1:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.582T>C
  hgvsp: ENST00000557565.1:c.582T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.582T>C
  hgvsp: ENST00000534898.4:c.582T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.582T>C
  hgvsp: ENST00000603544.1:c.582T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+917T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+917T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.297T>C
  hgvsp: ENST00000250377.7:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.582T>C
  hgvsp: ENST00000321130.10:c.582T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-466T>C
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val194Val
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

14-35593033-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593033
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593033
    reference: chr 14
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.582T>G
  hgvsp: ENST00000534898.4:c.582T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+917T>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.582T>G
  hgvsp: ENST00000321130.10:c.582T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.297T>G
  hgvsp: ENST00000604948.1:c.297T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-466T>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.297T>G
  hgvsp: ENST00000250377.7:c.297T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.582T>G
  hgvsp: ENST00000557565.1:c.582T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+917T>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.582T>G
  hgvsp: ENST00000603544.1:c.582T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val194Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

14-35593040-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593040
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593040
    reference: chr 14
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.589G>C
  hgvsp: ENSP00000454657.1:p.Val197Leu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.589G>C
  hgvsp: ENSP00000324697.8:p.Val197Leu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.589G>C
  hgvsp: ENSP00000473856.1:p.Val197Leu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.589G>C
  hgvsp: ENSP00000440915.2:p.Val197Leu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-459G>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+924G>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.304G>C
  hgvsp: ENSP00000474620.1:p.Val102Leu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+924G>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.304G>C
  hgvsp: ENSP00000250377.7:p.Val102Leu
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val197Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

http://identifiers.org/exac.variant/14-35593061-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593061
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593061
    reference: chr 14
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+945A>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.325A>C
  hgvsp: ENST00000250377.7:c.325A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.325A>C
  hgvsp: ENST00000604948.1:c.325A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.610A>C
  hgvsp: ENST00000603544.1:c.610A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.610A>C
  hgvsp: ENST00000557565.1:c.610A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-438A>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.610A>C
  hgvsp: ENST00000534898.4:c.610A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+945A>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.610A>C
  hgvsp: ENST00000321130.10:c.610A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg204Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

14-35593066-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593066
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593066
    reference: chr 14
allele count: 25
allele frequency: 2.063932369064131e-4
allele num: 121128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+950T>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.330T>A
  hgvsp: ENSP00000474620.1:p.Tyr110Ter
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.615T>A
  hgvsp: ENSP00000440915.2:p.Tyr205Ter
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.615T>A
  hgvsp: ENSP00000324697.8:p.Tyr205Ter
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-433T>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+950T>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.615T>A
  hgvsp: ENSP00000454657.1:p.Tyr205Ter
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.615T>A
  hgvsp: ENSP00000473856.1:p.Tyr205Ter
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.330T>A
  hgvsp: ENSP00000250377.7:p.Tyr110Ter
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11870
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13878
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr205Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

14-35593067-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593067
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593067
    reference: chr 14
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+951A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.331A>G
  hgvsp: ENSP00000250377.7:p.Lys111Glu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.616A>G
  hgvsp: ENSP00000440915.2:p.Lys206Glu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.616A>G
  hgvsp: ENSP00000473856.1:p.Lys206Glu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.616A>G
  hgvsp: ENSP00000324697.8:p.Lys206Glu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-432A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.331A>G
  hgvsp: ENSP00000474620.1:p.Lys111Glu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.616A>G
  hgvsp: ENSP00000454657.1:p.Lys206Glu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+951A>G
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys206Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/14-35593071-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593071
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593071
    reference: chr 14
allele count: 1
allele frequency: 8.257638315441784e-6
allele num: 121100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-428C>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.335C>A
  hgvsp: ENSP00000250377.7:p.Thr112Asn
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+955C>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.335C>A
  hgvsp: ENSP00000474620.1:p.Thr112Asn
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.620C>A
  hgvsp: ENSP00000440915.2:p.Thr207Asn
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.620C>A
  hgvsp: ENSP00000473856.1:p.Thr207Asn
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+955C>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.620C>A
  hgvsp: ENSP00000454657.1:p.Thr207Asn
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.620C>A
  hgvsp: ENSP00000324697.8:p.Thr207Asn
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr207Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

14-35593082-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593082
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593082
    reference: chr 14
allele count: 8
allele frequency: 6.60763843002511e-5
allele num: 121072
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+966A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.631A>G
  hgvsp: ENSP00000454657.1:p.Arg211Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.631A>G
  hgvsp: ENSP00000473856.1:p.Arg211Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.631A>G
  hgvsp: ENSP00000324697.8:p.Arg211Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+966A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.346A>G
  hgvsp: ENSP00000250377.7:p.Arg116Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.346A>G
  hgvsp: ENSP00000474620.1:p.Arg116Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.631A>G
  hgvsp: ENSP00000440915.2:p.Arg211Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-417A>G
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13829
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg211Gly
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: A
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-35593085-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593085
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593085
    reference: chr 14
allele count: 1
allele frequency: 8.260776182530111e-6
allele num: 121054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.634G>A
  hgvsp: ENSP00000473856.1:p.Gly212Ser
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.634G>A
  hgvsp: ENSP00000440915.2:p.Gly212Ser
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+969G>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.634G>A
  hgvsp: ENSP00000324697.8:p.Gly212Ser
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+969G>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.349G>A
  hgvsp: ENSP00000474620.1:p.Gly117Ser
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-414G>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.349G>A
  hgvsp: ENSP00000250377.7:p.Gly117Ser
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.634G>A
  hgvsp: ENSP00000454657.1:p.Gly212Ser
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28367
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly212Ser
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

14-35593091-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593091
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593091
    reference: chr 14
allele count: 5
allele frequency: 4.130729321569016e-5
allele num: 121044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.640A>G
  hgvsp: ENSP00000324697.8:p.Ser214Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.355A>G
  hgvsp: ENSP00000474620.1:p.Ser119Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+975A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-408A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+975A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.640A>G
  hgvsp: ENSP00000454657.1:p.Ser214Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.355A>G
  hgvsp: ENSP00000250377.7:p.Ser119Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.640A>G
  hgvsp: ENSP00000473856.1:p.Ser214Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.640A>G
  hgvsp: ENSP00000440915.2:p.Ser214Gly
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9326
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser214Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

14-35593102-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593102
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593102
    reference: chr 14
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.651C>T
  hgvsp: ENST00000603544.1:c.651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.651C>T
  hgvsp: ENST00000534898.4:c.651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-397C>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+986C>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+986C>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.366C>T
  hgvsp: ENST00000604948.1:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.651C>T
  hgvsp: ENST00000557565.1:c.651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.366C>T
  hgvsp: ENST00000250377.7:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.651C>T
  hgvsp: ENST00000321130.10:c.651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile217Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

14-35593105-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593105
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593105
    reference: chr 14
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+989G>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.369G>A
  hgvsp: ENST00000250377.7:c.369G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.654G>A
  hgvsp: ENST00000321130.10:c.654G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.654G>A
  hgvsp: ENST00000557565.1:c.654G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.369G>A
  hgvsp: ENST00000604948.1:c.369G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.654G>A
  hgvsp: ENST00000603544.1:c.654G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-394G>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+989G>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.654G>A
  hgvsp: ENST00000534898.4:c.654G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg218Arg
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

14-35593132-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593132
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593132
    reference: chr 14
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.396A>G
  hgvsp: ENST00000250377.7:c.396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-367A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1016A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.396A>G
  hgvsp: ENST00000604948.1:c.396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.681A>G
  hgvsp: ENST00000557565.1:c.681A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.681A>G
  hgvsp: ENST00000534898.4:c.681A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.681A>G
  hgvsp: ENST00000603544.1:c.681A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.681A>G
  hgvsp: ENST00000321130.10:c.681A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1016A>G
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg227Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

14-35593133-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593133
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593133
    reference: chr 14
allele count: 45
allele frequency: 3.719807561955462e-4
allele num: 120974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.682G>A
  hgvsp: ENSP00000473856.1:p.Glu228Lys
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.682G>A
  hgvsp: ENSP00000440915.2:p.Glu228Lys
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1017G>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1017G>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.682G>A
  hgvsp: ENSP00000324697.8:p.Glu228Lys
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.397G>A
  hgvsp: ENSP00000250377.7:p.Glu133Lys
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.682G>A
  hgvsp: ENSP00000454657.1:p.Glu228Lys
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.397G>A
  hgvsp: ENSP00000474620.1:p.Glu133Lys
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-366G>A
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28308
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12078
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13742
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu228Lys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

14-35593137-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593137
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593137
    reference: chr 14
allele count: 247
allele frequency: 2.041929830362753e-3
allele num: 120964
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.686C>T
  hgvsp: ENSP00000454657.1:p.Ala229Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1021C>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-362C>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1021C>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.401C>T
  hgvsp: ENSP00000250377.7:p.Ala134Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.401C>T
  hgvsp: ENSP00000474620.1:p.Ala134Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.686C>T
  hgvsp: ENSP00000440915.2:p.Ala229Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.686C>T
  hgvsp: ENSP00000324697.8:p.Ala229Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.686C>T
  hgvsp: ENSP00000473856.1:p.Ala229Val
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 13721
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 28306
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12039
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala229Val
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff

14-35593142-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593142
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593142
    reference: chr 14
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-357T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.691T>C
  hgvsp: ENST00000557565.1:c.691T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.691T>C
  hgvsp: ENST00000534898.4:c.691T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.406T>C
  hgvsp: ENST00000250377.7:c.406T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.691T>C
  hgvsp: ENST00000321130.10:c.691T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.691T>C
  hgvsp: ENST00000603544.1:c.691T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.406T>C
  hgvsp: ENST00000604948.1:c.406T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1026T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1026T>C
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu231Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

14-35593153-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593153
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593153
    reference: chr 14
allele count: 1
allele frequency: 8.268426187759421e-6
allele num: 120942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.417G>A
  hgvsp: ENST00000604948.1:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1037G>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.702G>A
  hgvsp: ENST00000557565.1:c.702G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.702G>A
  hgvsp: ENST00000321130.10:c.702G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-346G>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.417G>A
  hgvsp: ENST00000250377.7:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.702G>A
  hgvsp: ENST00000603544.1:c.702G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1037G>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.702G>A
  hgvsp: ENST00000534898.4:c.702G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu234Glu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

14-35593154-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593154
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593154
    reference: chr 14
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.418G>A
  hgvsp: ENSP00000250377.7:p.Asp140Asn
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1038G>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.703G>A
  hgvsp: ENSP00000473856.1:p.Asp235Asn
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.703G>A
  hgvsp: ENSP00000324697.8:p.Asp235Asn
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.703G>A
  hgvsp: ENSP00000454657.1:p.Asp235Asn
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.703G>A
  hgvsp: ENSP00000440915.2:p.Asp235Asn
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1038G>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-345G>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.418G>A
  hgvsp: ENSP00000474620.1:p.Asp140Asn
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp235Asn
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/14-35593157-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593157
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593157
    reference: chr 14
allele count: 1
allele frequency: 8.267605866693123e-6
allele num: 120954
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1041A>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.706A>C
  hgvsp: ENSP00000454657.1:p.Ile236Leu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.706A>C
  hgvsp: ENSP00000440915.2:p.Ile236Leu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.706A>C
  hgvsp: ENSP00000473856.1:p.Ile236Leu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.706A>C
  hgvsp: ENSP00000324697.8:p.Ile236Leu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.421A>C
  hgvsp: ENSP00000474620.1:p.Ile141Leu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.421A>C
  hgvsp: ENSP00000250377.7:p.Ile141Leu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1041A>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-342A>C
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile236Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-35593159-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593159
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593158
    reference: chr 14
allele count: 1
allele frequency: 8.268973158913126e-6
allele num: 120934
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.429delA
  hgvsp: ENSP00000250377.7:p.Val144LeufsTer2
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.714delA
  hgvsp: ENSP00000473856.1:p.Val239LeufsTer2
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.429delA
  hgvsp: ENSP00000474620.1:p.Val144LeufsTer2
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1049delA
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.714delA
  hgvsp: ENSP00000454657.1:p.Val239LeufsTer2
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.714delA
  hgvsp: ENSP00000440915.2:p.Val239LeufsTer2
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-334delA
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.714delA
  hgvsp: ENSP00000324697.8:p.Val239LeufsTer2
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1049delA
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9145
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val239LeufsTer2
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: CA
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

14-35593162-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593162
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593162
    reference: chr 14
allele count: 1
allele frequency: 8.267742575567167e-6
allele num: 120952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-337A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.426A>G
  hgvsp: ENST00000250377.7:c.426A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.711A>G
  hgvsp: ENST00000534898.4:c.711A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1046A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.711A>G
  hgvsp: ENST00000603544.1:c.711A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.711A>G
  hgvsp: ENST00000321130.10:c.711A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.426A>G
  hgvsp: ENST00000604948.1:c.426A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.711A>G
  hgvsp: ENST00000557565.1:c.711A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1046A>G
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys237Lys
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

14-35593169-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593169
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593169
    reference: chr 14
allele count: 1
allele frequency: 8.267332462507647e-6
allele num: 120958
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.433A>G
  hgvsp: ENSP00000474620.1:p.Ile145Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.718A>G
  hgvsp: ENSP00000324697.8:p.Ile240Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.718A>G
  hgvsp: ENSP00000454657.1:p.Ile240Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.718A>G
  hgvsp: ENSP00000473856.1:p.Ile240Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.718A>G
  hgvsp: ENSP00000440915.2:p.Ile240Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.433A>G
  hgvsp: ENSP00000250377.7:p.Ile145Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1053A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1053A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-330A>G
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45540
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile240Val
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

14-35593170-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593170
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593170
    reference: chr 14
allele count: 2
allele frequency: 1.653411815280832e-5
allele num: 120962
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.719T>C
  hgvsp: ENSP00000324697.8:p.Ile240Thr
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.719T>C
  hgvsp: ENSP00000473856.1:p.Ile240Thr
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-329T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.719T>C
  hgvsp: ENSP00000454657.1:p.Ile240Thr
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.719T>C
  hgvsp: ENSP00000440915.2:p.Ile240Thr
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.434T>C
  hgvsp: ENSP00000474620.1:p.Ile145Thr
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1054T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1054T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.434T>C
  hgvsp: ENSP00000250377.7:p.Ile145Thr
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile240Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

14-35593182-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593182
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593182
    reference: chr 14
allele count: 1
allele frequency: 8.266922390132602e-6
allele num: 120964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.446A>G
  hgvsp: ENSP00000474620.1:p.Lys149Arg
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1066A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.446A>G
  hgvsp: ENSP00000250377.7:p.Lys149Arg
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.731A>G
  hgvsp: ENSP00000324697.8:p.Lys244Arg
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1066A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.731A>G
  hgvsp: ENSP00000454657.1:p.Lys244Arg
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.731A>G
  hgvsp: ENSP00000473856.1:p.Lys244Arg
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.731A>G
  hgvsp: ENSP00000440915.2:p.Lys244Arg
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-317A>G
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13581
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys244Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

14-35593186-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593186
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593186
    reference: chr 14
allele count: 2
allele frequency: 1.653521173338625e-5
allele num: 120954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1070G>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.450G>T
  hgvsp: ENSP00000250377.7:p.Lys150Asn
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.450G>T
  hgvsp: ENSP00000474620.1:p.Lys150Asn
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.735G>T
  hgvsp: ENSP00000473856.1:p.Lys245Asn
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.735G>T
  hgvsp: ENSP00000440915.2:p.Lys245Asn
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.735G>T
  hgvsp: ENSP00000454657.1:p.Lys245Asn
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.735G>T
  hgvsp: ENSP00000324697.8:p.Lys245Asn
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1070G>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-313G>T
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys245Asn
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

14-35593198-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593198
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593198
    reference: chr 14
allele count: 2
allele frequency: 1.652755970580944e-5
allele num: 121010
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.747C>G
  hgvsp: ENSP00000454657.1:p.Asp249Glu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.747C>G
  hgvsp: ENSP00000440915.2:p.Asp249Glu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.462C>G
  hgvsp: ENSP00000250377.7:p.Asp154Glu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-301C>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1082C>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1082C>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.747C>G
  hgvsp: ENSP00000324697.8:p.Asp249Glu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.747C>G
  hgvsp: ENSP00000473856.1:p.Asp249Glu
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.462C>G
  hgvsp: ENSP00000474620.1:p.Asp154Glu
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13576
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp249Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

14-35593212-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593212
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593212
    reference: chr 14
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.761C>T
  hgvsp: ENSP00000454657.1:p.Ala254Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.476C>T
  hgvsp: ENSP00000474620.1:p.Ala159Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.476C>T
  hgvsp: ENSP00000250377.7:p.Ala159Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1096C>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-287C>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.761C>T
  hgvsp: ENSP00000440915.2:p.Ala254Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.761C>T
  hgvsp: ENSP00000473856.1:p.Ala254Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.761C>T
  hgvsp: ENSP00000324697.8:p.Ala254Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1096C>T
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala254Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum

14-35593216-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593216
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593216
    reference: chr 14
allele count: 10
allele frequency: 8.26255081468751e-5
allele num: 121028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.765C>T
  hgvsp: ENST00000321130.10:c.765C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.765C>T
  hgvsp: ENST00000557565.1:c.765C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.765C>T
  hgvsp: ENST00000534898.4:c.765C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-283C>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.480C>T
  hgvsp: ENST00000604948.1:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.765C>T
  hgvsp: ENST00000603544.1:c.765C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1100C>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.480C>T
  hgvsp: ENST00000250377.7:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1100C>T
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13505
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu255Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

14-35593218-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593218
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593218
    reference: chr 14
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.482T>C
  hgvsp: ENSP00000474620.1:p.Leu161Pro
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.767T>C
  hgvsp: ENSP00000324697.8:p.Leu256Pro
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.767T>C
  hgvsp: ENSP00000473856.1:p.Leu256Pro
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-281T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1102T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.482T>C
  hgvsp: ENSP00000250377.7:p.Leu161Pro
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1102T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.767T>C
  hgvsp: ENSP00000454657.1:p.Leu256Pro
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.767T>C
  hgvsp: ENSP00000440915.2:p.Leu256Pro
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu256Pro
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

14-35593233-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593233
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593233
    reference: chr 14
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.782A>G
  hgvsp: ENSP00000324697.8:p.Asn261Ser
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.782A>G
  hgvsp: ENSP00000440915.2:p.Asn261Ser
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.782A>G
  hgvsp: ENSP00000473856.1:p.Asn261Ser
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.497A>G
  hgvsp: ENSP00000474620.1:p.Asn166Ser
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-266A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.497A>G
  hgvsp: ENSP00000250377.7:p.Asn166Ser
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.782A>G
  hgvsp: ENSP00000454657.1:p.Asn261Ser
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1117A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1117A>G
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn261Ser
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

14-35593235-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593235
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593235
    reference: chr 14
allele count: 1
allele frequency: 8.265965712774223e-6
allele num: 120978
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.784A>T
  hgvsp: ENSP00000440915.2:p.Thr262Ser
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1119A>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.784A>T
  hgvsp: ENSP00000454657.1:p.Thr262Ser
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.784A>T
  hgvsp: ENSP00000473856.1:p.Thr262Ser
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.499A>T
  hgvsp: ENSP00000250377.7:p.Thr167Ser
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-264A>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1119A>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.784A>T
  hgvsp: ENSP00000324697.8:p.Thr262Ser
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.499A>T
  hgvsp: ENSP00000474620.1:p.Thr167Ser
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 28178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr262Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

14-35593243-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593243
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593243
    reference: chr 14
allele count: 1
allele frequency: 8.27034090345204e-6
allele num: 120914
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.792G>A
  hgvsp: ENSP00000454657.1:p.Trp264Ter
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.507G>A
  hgvsp: ENSP00000474620.1:p.Trp169Ter
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.507G>A
  hgvsp: ENSP00000250377.7:p.Trp169Ter
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.792G>A
  hgvsp: ENSP00000473856.1:p.Trp264Ter
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.792G>A
  hgvsp: ENSP00000440915.2:p.Trp264Ter
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1127G>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1127G>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-256G>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.792G>A
  hgvsp: ENSP00000324697.8:p.Trp264Ter
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Trp264Ter
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

14-35593249-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593249
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593249
    reference: chr 14
allele count: 9
allele frequency: 7.446386020651311e-5
allele num: 120864
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.798A>G
  hgvsp: ENST00000557565.1:c.798A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1133A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.798A>G
  hgvsp: ENST00000321130.10:c.798A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.798A>G
  hgvsp: ENST00000603544.1:c.798A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.513A>G
  hgvsp: ENST00000604948.1:c.513A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1133A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.798A>G
  hgvsp: ENST00000534898.4:c.798A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-250A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.513A>G
  hgvsp: ENST00000250377.7:c.513A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13275
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12703
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27818
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu266Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

14-35593251-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593251
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593251
    reference: chr 14
allele count: 3
allele frequency: 2.482251898922703e-5
allele num: 120858
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.800A>G
  hgvsp: ENSP00000454657.1:p.Tyr267Cys
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.800A>G
  hgvsp: ENSP00000473856.1:p.Tyr267Cys
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.800A>G
  hgvsp: ENSP00000324697.8:p.Tyr267Cys
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.515A>G
  hgvsp: ENSP00000250377.7:p.Tyr172Cys
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1135A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.515A>G
  hgvsp: ENSP00000474620.1:p.Tyr172Cys
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-248A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.800A>G
  hgvsp: ENSP00000440915.2:p.Tyr267Cys
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1135A>G
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr267Cys
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

14-35593277-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593277
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593277
    reference: chr 14
allele count: 5
allele frequency: 4.14524954402255e-5
allele num: 120620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.541G>T
  hgvsp: ENSP00000474620.1:p.Val181Phe
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.826G>T
  hgvsp: ENSP00000324697.8:p.Val276Phe
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.826G>T
  hgvsp: ENSP00000473856.1:p.Val276Phe
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.826G>T
  hgvsp: ENSP00000440915.2:p.Val276Phe
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1161G>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.826G>T
  hgvsp: ENSP00000454657.1:p.Val276Phe
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1161G>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-222G>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.541G>T
  hgvsp: ENSP00000250377.7:p.Val181Phe
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26380
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12728
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8257
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val276Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

14-35593278-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593278
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593278
    reference: chr 14
allele count: 1
allele frequency: 8.290086714307032e-6
allele num: 120626
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.827T>G
  hgvsp: ENSP00000440915.2:p.Val276Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.827T>G
  hgvsp: ENSP00000473856.1:p.Val276Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1162T>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.827T>G
  hgvsp: ENSP00000324697.8:p.Val276Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.827T>G
  hgvsp: ENSP00000454657.1:p.Val276Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-221T>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.542T>G
  hgvsp: ENSP00000250377.7:p.Val181Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.542T>G
  hgvsp: ENSP00000474620.1:p.Val181Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1162T>G
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val276Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

14-35593279-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593279
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593279
    reference: chr 14
allele count: 1
allele frequency: 8.290361625574107e-6
allele num: 120622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-220T>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.828T>A
  hgvsp: ENST00000603544.1:c.828T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1163T>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1163T>A
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.828T>A
  hgvsp: ENST00000557565.1:c.828T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.828T>A
  hgvsp: ENST00000534898.4:c.828T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.543T>A
  hgvsp: ENST00000250377.7:c.543T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.543T>A
  hgvsp: ENST00000604948.1:c.543T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.828T>A
  hgvsp: ENST00000321130.10:c.828T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44416
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val276Val
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

14-35593280-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593280
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593280
    reference: chr 14
allele count: 1
allele frequency: 8.291461452995706e-6
allele num: 120606
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1164C>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.544C>G
  hgvsp: ENSP00000474620.1:p.Pro182Ala
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.829C>G
  hgvsp: ENSP00000454657.1:p.Pro277Ala
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1164C>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.829C>G
  hgvsp: ENSP00000473856.1:p.Pro277Ala
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.829C>G
  hgvsp: ENSP00000324697.8:p.Pro277Ala
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-219C>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.544C>G
  hgvsp: ENSP00000250377.7:p.Pro182Ala
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.829C>G
  hgvsp: ENSP00000440915.2:p.Pro277Ala
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro277Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

14-35593283-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593283
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593283
    reference: chr 14
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.832A>G
  hgvsp: ENSP00000473856.1:p.Met278Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.832A>G
  hgvsp: ENSP00000324697.8:p.Met278Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.832A>G
  hgvsp: ENSP00000440915.2:p.Met278Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.832A>G
  hgvsp: ENSP00000454657.1:p.Met278Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1167A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.547A>G
  hgvsp: ENSP00000250377.7:p.Met183Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1167A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-216A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.547A>G
  hgvsp: ENSP00000474620.1:p.Met183Val
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met278Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

14-35593305-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593305
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593305
    reference: chr 14
allele count: 1
allele frequency: 8.318775476249896e-6
allele num: 120210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1189T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.854T>C
  hgvsp: ENSP00000454657.1:p.Phe285Ser
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-194T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.569T>C
  hgvsp: ENSP00000474620.1:p.Phe190Ser
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.854T>C
  hgvsp: ENSP00000440915.2:p.Phe285Ser
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1189T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.854T>C
  hgvsp: ENSP00000473856.1:p.Phe285Ser
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.569T>C
  hgvsp: ENSP00000250377.7:p.Phe190Ser
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.854T>C
  hgvsp: ENSP00000324697.8:p.Phe285Ser
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe285Ser
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

14-35593306-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593306
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593306
    reference: chr 14
allele count: 1
allele frequency: 8.321405984755183e-6
allele num: 120172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.855C>T
  hgvsp: ENST00000603544.1:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1190C>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.570C>T
  hgvsp: ENST00000250377.7:c.570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-193C>T
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.855C>T
  hgvsp: ENST00000534898.4:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.855C>T
  hgvsp: ENST00000557565.1:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.855C>T
  hgvsp: ENST00000321130.10:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.570C>T
  hgvsp: ENST00000604948.1:c.570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1190C>T
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12310
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43789
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe285Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

14-35593323-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593323
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593323
    reference: chr 14
allele count: 1
allele frequency: 8.339448929214757e-6
allele num: 119912
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.872A>G
  hgvsp: ENSP00000473856.1:p.Asp291Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1207A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.587A>G
  hgvsp: ENSP00000250377.7:p.Asp196Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.872A>G
  hgvsp: ENSP00000440915.2:p.Asp291Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.872A>G
  hgvsp: ENSP00000454657.1:p.Asp291Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.587A>G
  hgvsp: ENSP00000474620.1:p.Asp196Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.872A>G
  hgvsp: ENSP00000324697.8:p.Asp291Gly
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1207A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-176A>G
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp291Gly
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

14-35593325-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593325
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593325
    reference: chr 14
allele count: 1
allele frequency: 8.357151214294072e-6
allele num: 119658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-174A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.874A>G
  hgvsp: ENSP00000454657.1:p.Ile292Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.589A>G
  hgvsp: ENSP00000474620.1:p.Ile197Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.874A>G
  hgvsp: ENSP00000473856.1:p.Ile292Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1209A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1209A>G
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.874A>G
  hgvsp: ENSP00000324697.8:p.Ile292Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.874A>G
  hgvsp: ENSP00000440915.2:p.Ile292Val
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.589A>G
  hgvsp: ENSP00000250377.7:p.Ile197Val
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile292Val
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

14-35593336-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593336
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593336
    reference: chr 14
allele count: 1
allele frequency: 8.385744234800838e-6
allele num: 119250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  hgvsc: ENST00000605870.1:c.-131+1220T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsc: ENST00000250377.7:c.600T>C
  hgvsp: ENST00000250377.7:c.600T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsc: ENST00000604948.1:c.600T>C
  hgvsp: ENST00000604948.1:c.600T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsc: ENST00000557565.1:c.885T>C
  hgvsp: ENST00000557565.1:c.885T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsc: ENST00000321130.10:c.885T>C
  hgvsp: ENST00000321130.10:c.885T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsc: ENST00000603544.1:c.885T>C
  hgvsp: ENST00000603544.1:c.885T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  hgvsc: ENST00000557404.3:c.-83+1220T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  hgvsc: ENST00000603588.1:n.208-163T>C
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsc: ENST00000534898.4:c.885T>C
  hgvsp: ENST00000534898.4:c.885T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24183
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp295Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

14-35593346-AATAAACTACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35593346
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 35593336
    reference: chr 14
allele count: 1
allele frequency: 8.43397881384522e-6
allele num: 118568
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000324697
  ensembl transcript: ENST00000321130
  gene symbol: KIAA0391
  hgvsp: ENSP00000324697.8:p.Asn299LysfsTer7
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000473856
  ensembl transcript: ENST00000603544
  gene symbol: KIAA0391
  hgvsp: ENSP00000473856.1:p.Asn299LysfsTer7
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474299
  ensembl transcript: ENST00000605870
  gene symbol: KIAA0391
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000450898
  ensembl transcript: ENST00000557404
  gene symbol: KIAA0391
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000440915
  ensembl transcript: ENST00000534898
  gene symbol: KIAA0391
  hgvsp: ENSP00000440915.2:p.Asn299LysfsTer7
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100890
  ensembl transcript: ENST00000603588
  gene symbol: KIAA0391
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258790
  ensembl protein: ENSP00000454657
  ensembl transcript: ENST00000557565
  gene symbol: KIAA0391
  hgvsp: ENSP00000454657.1:p.Asn299LysfsTer7
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000474620
  ensembl transcript: ENST00000604948
  gene symbol: KIAA0391
  hgvsp: ENSP00000474620.1:p.Asn204LysfsTer7
  variant of: http://identifiers.org/hgnc/19958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100890
  ensembl protein: ENSP00000250377
  ensembl transcript: ENST00000250377
  gene symbol: KIAA0391
  hgvsp: ENSP00000250377.7:p.Asn204LysfsTer7
  variant of: http://identifiers.org/hgnc/19958
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11765
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn299LysfsTer7
num of homozygotes: 0
reference allele: AATAAACTACT

GenotypeQuality
all individuals: 4317
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2805
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4081
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10120
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22491
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5080
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4387
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.020499859590003e-5
allele num: 14244
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65760
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.889e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

DP
type: SiteQuality
SIO_000300: 2.274304e6

QD
type: SiteQuality
SIO_000300: 2.522e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.369e0

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.07e-1

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9542
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 104
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45183
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

DP
type: SiteQuality
SIO_000300: 1.727136e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.044e0

QD
type: SiteQuality
SIO_000300: 1.124e1

MQ
type: SiteQuality
SIO_000300: 5.916e1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

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

GenotypeQuality
all individuals: 210
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9542
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 520
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1615
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45240
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.72777e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.294e0

FS
type: SiteQuality
SIO_000300: 2.64e0

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.54e-1

QD
type: SiteQuality
SIO_000300: 1.212e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 4315
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4082
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22487
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 630
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2461
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5062
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2653
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9828
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4386
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2809
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.314814814814815e-4
allele num: 8640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13886
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65626
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 2.26769e6

FS
type: SiteQuality
SIO_000300: 3.104e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.095e0

VQSLOD
type: SiteQuality
SIO_000300: 9.379999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.464e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

GenotypeQuality
all individuals: 162
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9841
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4385
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4317
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4085
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22481
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5035
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13478
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527183872938302e-5
allele num: 65480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.085e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.264113e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.047e0

QD
type: SiteQuality
SIO_000300: 1.44e1

FS
type: SiteQuality
SIO_000300: 9.964e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

GenotypeQuality
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variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529940944279551e-5
allele num: 65362
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: -2.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

FS
type: SiteQuality
SIO_000300: 4.987e0

VQSLOD
type: SiteQuality
SIO_000300: 6.01e-1

QD
type: SiteQuality
SIO_000300: 1.485e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.223e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

DP
type: SiteQuality
SIO_000300: 2.261147e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65332
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13020
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.782e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.427e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.768e0

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.26e-1

DP
type: SiteQuality
SIO_000300: 2.260597e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 2458
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531675039823551e-5
allele num: 65288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12888
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.674e0

VQSLOD
type: SiteQuality
SIO_000300: -2.562e-1

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 9.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.256e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

DP
type: SiteQuality
SIO_000300: 2.259669e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 7.818608287724784e-5
allele num: 12790
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65240
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.931e0

VQSLOD
type: SiteQuality
SIO_000300: 6.06e-1

FS
type: SiteQuality
SIO_000300: 8.61e-1

DP
type: SiteQuality
SIO_000300: 2.259059e6

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.06e-1

QD
type: SiteQuality
SIO_000300: 1.116e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12724
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 9.1e-1

QD
type: SiteQuality
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InbreedingCoeff
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DP
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SIO_000300: 2.258888e6

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
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SIO_000300: 1.29e0

VQSLOD
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SIO_000300: 1.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele num: 848
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.934984520123839e-4
allele num: 10336
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.533554165133113e-5
allele num: 65208
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.762e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

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

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

European (Non-Finnish)
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allele count: 0
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African
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allele frequency: 1.937984496124031e-4
allele num: 10320
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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South Asian
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East Asian
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.855e1

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

African
type: Population
allele count: 1
allele frequency: 9.678668215253581e-5
allele num: 10332
num of homozygotes: 0

Latino
type: Population
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Other
type: Population
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allele frequency: 0.0e0
allele num: 906
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European (Finnish)
type: Population
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allele frequency: 0.0e0
allele num: 6612
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South Asian
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allele num: 16496
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East Asian
type: Population
allele count: 0
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allele num: 8644
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
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ClippingRankSum
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FS
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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DP
type: SiteQuality
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QD
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BaseQRankSum
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SIO_000300: 4.72e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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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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African
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allele frequency: 5.997291545753531e-3
allele num: 10338
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European (Non-Finnish)
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allele count: 9
allele frequency: 1.350540216086435e-4
allele num: 66640
num of homozygotes: 0

Latino
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allele count: 7
allele frequency: 6.055363321799307e-4
allele num: 11560
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

VQSLOD
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ReadPosRankSum
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BaseQRankSum
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QD
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MQ
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FS
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InbreedingCoeff
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MQRankSum
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DP
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ClippingRankSum
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SIO_000300: -3.3e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
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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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

BaseQRankSum
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MQRankSum
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SIO_000300: -9.52e-1

VQSLOD
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QD
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DP
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InbreedingCoeff
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FS
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.948e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 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: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

Other
type: Population
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ClippingRankSum
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
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VQSLOD
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QD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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allele frequency: 0.0e0
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African
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South Asian
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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 frequency: 4.49842555105713e-5
allele num: 66690
num of homozygotes: 0

European (Finnish)
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ClippingRankSum
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BaseQRankSum
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FS
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QD
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MQ
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MQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 2.24901043540842e-4
allele num: 66696
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European (Finnish)
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South Asian
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Latino
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African
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Other
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East Asian
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MQRankSum
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FS
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QD
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DP
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 66712
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East Asian
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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QD
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MQ
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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East Asian
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Latino
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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MQ
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QD
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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East Asian
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allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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QD
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MQ
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10366
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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

QD
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ReadPosRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

South Asian
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allele num: 16506
num of homozygotes: 0

East Asian
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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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Latino
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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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num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

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

African
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allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
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SIO_000300: -1.359e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.82e-1

MQRankSum
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QD
type: SiteQuality
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MQ
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FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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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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VQSLOD
type: SiteQuality
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QD
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MQRankSum
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DP
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BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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African
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allele num: 10314
num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 25

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.149653538110808e-4
allele num: 66674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

DP
type: SiteQuality
SIO_000300: 1.720276e6

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

QD
type: SiteQuality
SIO_000300: 1.393e1

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

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.276e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.85e-1

DP
type: SiteQuality
SIO_000300: 1.719329e6

FS
type: SiteQuality
SIO_000300: 4.732e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.34e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.68e-1

QD
type: SiteQuality
SIO_000300: 1.69e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 139
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.83e-1

DP
type: SiteQuality
SIO_000300: 1.719085e6

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

QD
type: SiteQuality
SIO_000300: 1.222e1

MQRankSum
type: SiteQuality
SIO_000300: -2.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.632e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049916006719462e-4
allele num: 66672
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.84251968503937e-5
allele num: 10160
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.426e1

DP
type: SiteQuality
SIO_000300: 1.718391e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.679999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 181
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
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: 904
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.306e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.16e-1

DP
type: SiteQuality
SIO_000300: 1.718084e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.5307e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.154e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.79e-1

QD
type: SiteQuality
SIO_000300: 1.578e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 102
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.49985000299994e-5
allele num: 66668
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 1.101e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

QD
type: SiteQuality
SIO_000300: 1.345e1

DP
type: SiteQuality
SIO_000300: 1.717351e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.889240506329114e-5
allele num: 10112
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 8.000999999999999e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.435e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.601e0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

DP
type: SiteQuality
SIO_000300: 1.716136e6

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.896e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

QD
type: SiteQuality
SIO_000300: 1.077e1

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.05e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: -3.982e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

QD
type: SiteQuality
SIO_000300: 1.418e1

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

DP
type: SiteQuality
SIO_000300: 1.71429e6

GenotypeQuality
all individuals: 476
bin: 9.75e1
variant carriers: 45

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

GenotypeQuality
all individuals: 337
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2039
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9244
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45338
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 45
allele frequency: 6.75330912146952e-4
allele num: 66634
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 1.318e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.37e-1

DP
type: SiteQuality
SIO_000300: 1.715138e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.793e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

GenotypeQuality
all individuals: 602
bin: 9.75e1
variant carriers: 246

GenotypeQuality
all individuals: 137
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9214
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 131
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1482
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45284
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 18
allele frequency: 1.556016597510373e-3
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 103
allele frequency: 1.54603584401549e-3
allele num: 66622
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.543237250554324e-3
allele num: 902
num of homozygotes: 1

South Asian
type: Population
allele count: 114
allele frequency: 6.907416383906932e-3
allele num: 16504
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 3.958044725905402e-4
allele num: 10106
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.543e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

QD
type: SiteQuality
SIO_000300: 1.228e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 1.719296e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.04e-2

GenotypeQuality
all individuals: 161
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45465
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9226
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1484
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2015
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

QD
type: SiteQuality
SIO_000300: 1.097e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-2

FS
type: SiteQuality
SIO_000300: 2.256e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.67e0

DP
type: SiteQuality
SIO_000300: 1.710547e6

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 174
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45351
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2003
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.704e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

DP
type: SiteQuality
SIO_000300: 1.709354e6

VQSLOD
type: SiteQuality
SIO_000300: 2.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.776e0

QD
type: SiteQuality
SIO_000300: 1.013e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45384
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9174
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 350
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.879470460383324e-5
allele num: 10122
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.597e0

FS
type: SiteQuality
SIO_000300: 2.258e0

QD
type: SiteQuality
SIO_000300: 5.78e0

MQRankSum
type: SiteQuality
SIO_000300: -1.849e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.179e0

DP
type: SiteQuality
SIO_000300: 1.709176e6

VQSLOD
type: SiteQuality
SIO_000300: -2.886e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 353
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 137
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45447
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2000
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.708532e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 8.186e0

QD
type: SiteQuality
SIO_000300: 1.311e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.317e0

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

GenotypeQuality
all individuals: 196
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45393
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 354
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 150
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1981
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1440
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 3.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.70859e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.844e0

FS
type: SiteQuality
SIO_000300: 1.234e0

MQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

QD
type: SiteQuality
SIO_000300: 7.5e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9153
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 177
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45426
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1440
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.871668311944718e-5
allele num: 10130
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.13e-1

FS
type: SiteQuality
SIO_000300: 4.189e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.707879e6

QD
type: SiteQuality
SIO_000300: 1.207e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQ
type: SiteQuality
SIO_000300: 5.898e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.313e-1

GenotypeQuality
all individuals: 1977
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

DP
type: SiteQuality
SIO_000300: 1.708089e6

MQRankSum
type: SiteQuality
SIO_000300: -6.54e-1

FS
type: SiteQuality
SIO_000300: 1.517e0

QD
type: SiteQuality
SIO_000300: 1.269e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

FS
type: SiteQuality
SIO_000300: 1.1334e1

DP
type: SiteQuality
SIO_000300: 1.707947e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

QD
type: SiteQuality
SIO_000300: 1.419e1

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

GenotypeQuality
all individuals: 350
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.827044025157233e-5
allele num: 10176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -5.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-1

QD
type: SiteQuality
SIO_000300: 1.743e1

DP
type: SiteQuality
SIO_000300: 1.707059e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.886e1

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1945
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 9.75e1
variant carriers: 2

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502629601803156e-5
allele num: 66550
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.402e0

DP
type: SiteQuality
SIO_000300: 1.707318e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.924e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

QD
type: SiteQuality
SIO_000300: 1.041e1

MQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
all individuals: 150
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 97
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9062
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005259203606311e-5
allele num: 66550
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.397e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

FS
type: SiteQuality
SIO_000300: 7.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.202e1

DP
type: SiteQuality
SIO_000300: 1.70818e6

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

GenotypeQuality
all individuals: 131
bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.767e0

VQSLOD
type: SiteQuality
SIO_000300: 7.2e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

DP
type: SiteQuality
SIO_000300: 1.70793e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

FS
type: SiteQuality
SIO_000300: 6.303e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.187e1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 353
bin: 9.75e1
variant carriers: 10

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 9.708737864077669e-4
allele num: 10300
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.595e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

DP
type: SiteQuality
SIO_000300: 1.707747e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

GenotypeQuality
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.25e1
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GenotypeQuality
all individuals: 139
bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 344
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 2.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 145
bin: 9.25e1
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GenotypeQuality
all individuals: 119
bin: 4.75e1
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GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 1397
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9021
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502945773716484e-5
allele num: 66536
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.307e0

FS
type: SiteQuality
SIO_000300: 6.989e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.49e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.695e-1

DP
type: SiteQuality
SIO_000300: 1.707149e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 1.429e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.284e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.47e-1

DP
type: SiteQuality
SIO_000300: 1.703894e6

VQSLOD
type: SiteQuality
SIO_000300: 8.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1356
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GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.994e0

MQRankSum
type: SiteQuality
SIO_000300: 2.21e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.247e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.796e0

DP
type: SiteQuality
SIO_000300: 1.703086e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 335
bin: 9.75e1
variant carriers: 1

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66446
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.076e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.03e-1

QD
type: SiteQuality
SIO_000300: 1.336e1

DP
type: SiteQuality
SIO_000300: 1.699834e6

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

FS
type: SiteQuality
SIO_000300: 2.597e0

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

GenotypeQuality
all individuals: 490
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9

GenotypeQuality
all individuals: 137
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GenotypeQuality
all individuals: 300
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

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

African
type: Population
allele count: 7
allele frequency: 6.793478260869565e-4
allele num: 10304
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505797319680771e-5
allele num: 66410
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.15e-1

QD
type: SiteQuality
SIO_000300: 1.464e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 2.434e0

DP
type: SiteQuality
SIO_000300: 1.695607e6

GenotypeQuality
all individuals: 310
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011685339115769e-5
allele num: 66408
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

QD
type: SiteQuality
SIO_000300: 1.448e1

VQSLOD
type: SiteQuality
SIO_000300: 6.95e-1

DP
type: SiteQuality
SIO_000300: 1.694628e6

FS
type: SiteQuality
SIO_000300: 2.267e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.036642419486282e-5
allele num: 66262
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.24e-1

DP
type: SiteQuality
SIO_000300: 1.670445e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.227e1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.489e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 121
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

DP
type: SiteQuality
SIO_000300: 1.670218e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.83e-1

FS
type: SiteQuality
SIO_000300: 2.114e0

QD
type: SiteQuality
SIO_000300: 1.054e1

MQ
type: SiteQuality
SIO_000300: 5.917e1

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 387
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.75e1
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GenotypeQuality
all individuals: 543
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GenotypeQuality
all individuals: 1629
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.58e0

FS
type: SiteQuality
SIO_000300: 2.114e0

VQSLOD
type: SiteQuality
SIO_000300: -1.003e0

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.054e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 8.32e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e-1

GenotypeQuality
all individuals: 436
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
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GenotypeQuality
all individuals: 641
bin: 3.75e1
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GenotypeQuality
all individuals: 407
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66256
num of homozygotes: 0

South Asian
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allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 1.06e0

ReadPosRankSum
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FS
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

QD
type: SiteQuality
SIO_000300: 1.565e1

DP
type: SiteQuality
SIO_000300: 1.668484e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66240
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.665562e6

BaseQRankSum
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SIO_000300: 2.59e0

MQRankSum
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SIO_000300: 9.08e-1

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.939e1

FS
type: SiteQuality
SIO_000300: 9.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.583e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.07e1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.091617933723197e-5
allele num: 16416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66038
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: 6.62e-1

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.932e1

MQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.134e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514692517418964e-5
allele num: 66020
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10122
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

QD
type: SiteQuality
SIO_000300: 3.55e0

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.9e-1

MQ
type: SiteQuality
SIO_000300: 5.564e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.643e0

DP
type: SiteQuality
SIO_000300: 1.649381e6

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.162790697674419e-4
allele num: 8600
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65922
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.628e1

MQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 1.64005e6

FS
type: SiteQuality
SIO_000300: 8.315e0

MQ
type: SiteQuality
SIO_000300: 5.865e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.456e0

VQSLOD
type: SiteQuality
SIO_000300: -1.838e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9958
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16304
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.519756838905775e-5
allele num: 65800
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.25e-1

InbreedingCoeff
type: SiteQuality
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MQRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.635028e6

ReadPosRankSum
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SIO_000300: -1.218e0

GenotypeQuality
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variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.697164724299878e-5
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65660
num of homozygotes: 0

Other
type: Population
allele count: 0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

MQRankSum
type: SiteQuality
SIO_000300: 5.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

QD
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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