2-182430150-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430150
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430150
    reference: chr 2
allele count: 13
allele frequency: 1.08192682845634e-4
allele num: 120156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+635A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8330A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6715A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.623+10A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+635A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.755+10A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6715A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6715A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15715A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6715A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+635A>G
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

2-182430153-CACTTGCCTTGGTTCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430153
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430138
    reference: chr 2
allele count: 1
allele frequency: 8.321821480285606e-6
allele num: 120166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19563
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
hgvs: c.747_755+6delAGAACCAAGGCAAGT
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: CACTTGCCTTGGTTCT
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-182430171-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430171
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430171
    reference: chr 2
allele count: 2
allele frequency: 1.663118680149015e-5
allele num: 120256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+614G>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15736G>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.612G>T
  hgvsp: ENST00000409440.3:c.612G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6736G>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8309G>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6736G>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.744G>T
  hgvsp: ENST00000339098.5:c.744G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+614G>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+614G>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6736G>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6736G>T
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12017
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr248Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

2-182430171-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430171
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430171
    reference: chr 2
allele count: 1
allele frequency: 8.315593400745077e-6
allele num: 120256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+614G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.744G>A
  hgvsp: ENST00000339098.5:c.744G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6736G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15736G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+614G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8309G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.612G>A
  hgvsp: ENST00000409440.3:c.612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6736G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+614G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6736G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6736G>A
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr248Thr
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ

2-182430172-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430172
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430172
    reference: chr 2
allele count: 3
allele frequency: 2.494553558064892e-5
allele num: 120262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6737C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.611C>T
  hgvsp: ENSP00000387080.3:p.Thr204Met
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6737C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+613C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.743C>T
  hgvsp: ENSP00000341159.5:p.Thr248Met
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+613C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+613C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6737C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15737C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8308C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6737C>T
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr248Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

2-182430175-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430175
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430175
    reference: chr 2
allele count: 3
allele frequency: 2.494221719682735e-5
allele num: 120278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6740A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.608A>G
  hgvsp: ENSP00000387080.3:p.Gln203Arg
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.740A>G
  hgvsp: ENSP00000341159.5:p.Gln247Arg
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6740A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6740A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+610A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+610A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6740A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8305A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+610A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15740A>G
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln247Arg
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

2-182430182-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430182
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430182
    reference: chr 2
allele count: 1
allele frequency: 8.312966565248474e-6
allele num: 120294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15747G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6747G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+603G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.601G>A
  hgvsp: ENSP00000387080.3:p.Gly201Ser
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6747G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+603G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8298G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.733G>A
  hgvsp: ENSP00000341159.5:p.Gly245Ser
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6747G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6747G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+603G>A
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly245Ser
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-182430183-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430183
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430183
    reference: chr 2
allele count: 2
allele frequency: 1.662620955674525e-5
allele num: 120292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6748T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6748T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.600T>G
  hgvsp: ENST00000409440.3:c.600T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.732T>G
  hgvsp: ENST00000339098.5:c.732T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6748T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+602T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+602T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8297T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15748T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+602T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6748T>G
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr244Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

2-182430184-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430184
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430184
    reference: chr 2
allele count: 1
allele frequency: 8.313657676831499e-6
allele num: 120284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.599C>T
  hgvsp: ENSP00000387080.3:p.Thr200Ile
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6749C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15749C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6749C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.731C>T
  hgvsp: ENSP00000341159.5:p.Thr244Ile
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+601C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6749C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+601C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+601C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6749C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8296C>T
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr244Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-182430186-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430186
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430186
    reference: chr 2
allele count: 1
allele frequency: 8.31282835672009e-6
allele num: 120296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6751C>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15751C>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.597C>G
  hgvsp: ENSP00000387080.3:p.Phe199Leu
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+599C>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6751C>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+599C>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6751C>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.729C>G
  hgvsp: ENSP00000341159.5:p.Phe243Leu
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8294C>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6751C>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+599C>G
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe243Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-182430196-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430196
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430196
    reference: chr 2
allele count: 2
allele frequency: 1.662952738883161e-5
allele num: 120268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8284A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.587A>G
  hgvsp: ENSP00000387080.3:p.Gln196Arg
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+589A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+589A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6761A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+589A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6761A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6761A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.719A>G
  hgvsp: ENSP00000341159.5:p.Gln240Arg
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15761A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6761A>G
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln240Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

2-182430207-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430207
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430207
    reference: chr 2
allele count: 387
allele frequency: 3.219580373038718e-3
allele num: 120202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.576T>C
  hgvsp: ENST00000409440.3:c.576T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+578T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.708T>C
  hgvsp: ENST00000339098.5:c.708T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6772T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6772T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15772T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8273T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+578T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+578T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6772T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6772T>C
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9428
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 242
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9300
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 8.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
hgvs: p.His236His
num of homozygotes: 8
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

2-182430212-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430212
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430212
    reference: chr 2
allele count: 1
allele frequency: 8.321821480285606e-6
allele num: 120166
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.703A>G
  hgvsp: ENSP00000341159.5:p.Ile235Val
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8268A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15777A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6777A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+573A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+573A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6777A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6777A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+573A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.571A>G
  hgvsp: ENSP00000387080.3:p.Ile191Val
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6777A>G
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile235Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-182430215-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430215
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430215
    reference: chr 2
allele count: 5
allele frequency: 4.162365555592554e-5
allele num: 120124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+570G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.568G>A
  hgvsp: ENSP00000387080.3:p.Ala190Thr
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8265G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6780G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6780G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6780G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+570G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15780G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6780G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.700G>A
  hgvsp: ENSP00000341159.5:p.Ala234Thr
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+570G>A
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala234Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

2-182430216-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430216
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430216
    reference: chr 2
allele count: 8
allele frequency: 6.66000666000666e-5
allele num: 120120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.567C>T
  hgvsp: ENST00000409440.3:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+569C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15781C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+569C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.699C>T
  hgvsp: ENST00000339098.5:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6781C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6781C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8264C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6781C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6781C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+569C>T
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7084
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe233Phe
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-182430219-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430219
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430219
    reference: chr 2
allele count: 296
allele frequency: 2.465146492995986e-3
allele num: 120074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6784G>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.564G>T
  hgvsp: ENSP00000387080.3:p.Leu188Phe
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8261G>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+566G>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6784G>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6784G>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.696G>T
  hgvsp: ENSP00000341159.5:p.Leu232Phe
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+566G>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+566G>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15784G>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6784G>T
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 11946
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4587
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9309
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
hgvs: p.Leu232Phe
num of homozygotes: 3
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

2-182430220-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430220
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430220
    reference: chr 2
allele count: 1
allele frequency: 8.328613785521537e-6
allele num: 120068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+565T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8260T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+565T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.563T>C
  hgvsp: ENSP00000387080.3:p.Leu188Ser
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.695T>C
  hgvsp: ENSP00000341159.5:p.Leu232Ser
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15785T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6785T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+565T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6785T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6785T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6785T>C
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu232Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-182430230-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430230
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430230
    reference: chr 2
allele count: 2
allele frequency: 1.667917604870319e-5
allele num: 119910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15795C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.685C>T
  hgvsp: ENSP00000341159.5:p.Arg229Trp
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.553C>T
  hgvsp: ENSP00000387080.3:p.Arg185Trp
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+555C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+555C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6795C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8250C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6795C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+555C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6795C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6795C>T
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg229Trp
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD

2-182430232-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430232
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430232
    reference: chr 2
allele count: 1
allele frequency: 8.340561820244212e-6
allele num: 119896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8248A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+553A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+553A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6797A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.683A>G
  hgvsp: ENSP00000341159.5:p.His228Arg
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6797A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+553A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15797A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.551A>G
  hgvsp: ENSP00000387080.3:p.His184Arg
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6797A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6797A>G
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His228Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

2-182430249-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430249
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430249
    reference: chr 2
allele count: 1
allele frequency: 8.36456102783726e-6
allele num: 119552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+536T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6814T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6814T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6814T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8231T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+536T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6814T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.678-12T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+536T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15814T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.546-12T>C
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

2-182430250-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430250
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430250
    reference: chr 2
allele count: 1
allele frequency: 8.366100560528738e-6
allele num: 119530
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.678-13A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6815A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6815A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15815A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+535A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+535A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6815A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+535A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.546-13A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8230A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6815A>G
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-182430252-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430252
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430252
    reference: chr 2
allele count: 1
allele frequency: 8.370302167908262e-6
allele num: 119470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6817G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6817G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+533G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+533G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6817G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8228G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.678-15G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+533G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6817G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.546-15G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15817G>C
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

2-182430252-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430252
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430252
    reference: chr 2
allele count: 1
allele frequency: 8.370302167908262e-6
allele num: 119470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+533G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.546-15G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6817G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6817G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+533G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6817G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15817G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.678-15G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8228G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+533G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6817G>A
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-182430255-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430255
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430255
    reference: chr 2
allele count: 1
allele frequency: 8.375910880308233e-6
allele num: 119390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6820T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6820T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+530T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+530T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+530T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6820T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.546-18T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15820T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.678-18T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8225T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6820T>C
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-182430258-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430258
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430258
    reference: chr 2
allele count: 1
allele frequency: 8.380403265005112e-6
allele num: 119326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6823A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8222A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.678-21A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6823A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+527A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6823A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+527A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6823A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.546-21A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15823A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+527A>G
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-182430261-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430261
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430261
    reference: chr 2
allele count: 1
allele frequency: 8.386447500838645e-6
allele num: 119240
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.678-24A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6826A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6826A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6826A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+524A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15826A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6826A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8219A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+524A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.546-24A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+524A>G
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

2-182430270-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430270
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430270
    reference: chr 2
allele count: 14
allele frequency: 1.178550383028874e-4
allele num: 118790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+515G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6835G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6835G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8210G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15835G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+515G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.678-33G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6835G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6835G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.546-33G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+515G>A
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9292
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-182430277-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430277
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430277
    reference: chr 2
allele count: 2
allele frequency: 1.691932864103952e-5
allele num: 118208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6842T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+508T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8203T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.546-40T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15842T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6842T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6842T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6842T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+508T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.678-40T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+508T>G
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

2-182430277-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430277
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430277
    reference: chr 2
allele count: 1
allele frequency: 8.459664320519762e-6
allele num: 118208
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.678-40T>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-15842T>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+508T>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+508T>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-6842T>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+8203T>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-6842T>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-6842T>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+508T>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-6842T>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.546-40T>A
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11826
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-182430734-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430734
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430734
    reference: chr 2
allele count: 3
allele frequency: 3.095591877166914e-5
allele num: 96912
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7299C>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7299C>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16299C>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+51C>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7299C>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.677+51C>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+51C>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7299C>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7746C>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+51C>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.545+51C>A
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9922
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

2-182430743-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430743
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430743
    reference: chr 2
allele count: 2
allele frequency: 2.053430255241381e-5
allele num: 97398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.545+42T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7308T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7737T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+42T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7308T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+42T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7308T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7308T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16308T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.677+42T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+42T>C
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7590
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7505
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-182430746-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430746
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430745
    reference: chr 2
allele count: 2
allele frequency: 2.04997847522601e-5
allele num: 97562
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.677+38delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7312delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7312delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+38delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+38delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7312delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+38delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7733delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7312delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16312delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.545+38delT
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: TA
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

2-182430749-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430749
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430749
    reference: chr 2
allele count: 3
allele frequency: 3.065478623395733e-5
allele num: 97864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7314T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7731T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+36T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7314T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+36T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7314T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.677+36T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.545+36T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7314T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+36T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16314T>C
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-182430759-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430759
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430759
    reference: chr 2
allele count: 3
allele frequency: 2.95846317699499e-5
allele num: 101404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7324T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7324T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+26T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.677+26T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16324T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+26T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7324T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+26T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7324T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7721T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.545+26T>C
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

2-182430764-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430764
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430765
    reference: chr 2
allele count: 5
allele frequency: 4.765263137830471e-5
allele num: 104926
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7330_614-7329insT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7330_482-7329insT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7330_494-7329insT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7715_613+7716insT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.677+20_677+21insT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+20_677+21insT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.545+20_545+21insT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+20_675+21insT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7330_482-7329insT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+20_677+21insT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16330_482-16329insT
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25861
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9355
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

2-182430766-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430766
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430766
    reference: chr 2
allele count: 5
allele frequency: 4.6923683321446e-5
allele num: 106556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.545+19C>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7331C>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7331C>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16331C>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+19C>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+19C>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.677+19C>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+19C>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7714C>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7331C>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7331C>G
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9559
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

2-182430768-T-TTACATA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430768
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430774
    reference: chr 2
allele count: 5
allele frequency: 4.623037520572517e-5
allele num: 108154
alternate allele: TTACATA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+16_677+17insTATGTA
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.545+16_545+17insTATGTA
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.677+16_677+17insTATGTA
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+16_675+17insTATGTA
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+16_677+17insTATGTA
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9710
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

2-182430774-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430774
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430774
    reference: chr 2
allele count: 1
allele frequency: 8.843296781039971e-6
allele num: 113080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7339T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+11T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7339T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7339T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7706T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16339T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+11T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+11T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7339T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.545+11T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.677+11T>C
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

2-182430777-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430777
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430777
    reference: chr 2
allele count: 1
allele frequency: 8.702008423544154e-6
allele num: 114916
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16342A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7342A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7703A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.545+8A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.677+8A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.677+8A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.677+8A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7342A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.675+8A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7342A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7342A>G
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.677+8A>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum

2-182430789-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430789
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430789
    reference: chr 2
allele count: 1
allele frequency: 8.427581789681268e-6
allele num: 118658
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7354G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7691G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.592G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.671G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.673G>A
  hgvsp: ENSP00000386725.3:p.Asp225Asn
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7354G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.541G>A
  hgvsp: ENSP00000387080.3:p.Asp181Asn
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.673G>A
  hgvsp: ENSP00000341159.5:p.Asp225Asn
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7354G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7354G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.673G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16354G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.572G>A
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp225Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-182430794-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430794
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430794
    reference: chr 2
allele count: 2
allele frequency: 1.679430337229612e-5
allele num: 119088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.668G>A
  hgvsp: ENSP00000386725.3:p.Gly223Glu
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.668G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.587G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7359G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7359G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.668G>A
  hgvsp: ENSP00000341159.5:p.Gly223Glu
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7359G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.536G>A
  hgvsp: ENSP00000387080.3:p.Gly179Glu
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7686G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.567G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7359G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16359G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.666G>A
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5374
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly223Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

2-182430798-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430798
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430798
    reference: chr 2
allele count: 1
allele frequency: 8.381527114240214e-6
allele num: 119310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.532C>T
  hgvsp: ENSP00000387080.3:p.Gln178Ter
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7363C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7682C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.662C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7363C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.664C>T
  hgvsp: ENSP00000386725.3:p.Gln222Ter
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.664C>T
  hgvsp: ENSP00000341159.5:p.Gln222Ter
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7363C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.664C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16363C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.563C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.583C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7363C>T
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10891
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32793
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln222Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum

2-182430806-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430806
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430806
    reference: chr 2
allele count: 1
allele frequency: 8.363581620193032e-6
allele num: 119566
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7371G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.656G>C
  hgvsp: ENSP00000386725.3:p.Cys219Ser
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.656G>C
  hgvsp: ENSP00000341159.5:p.Cys219Ser
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7371G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7371G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.654G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.575G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7371G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.524G>C
  hgvsp: ENSP00000387080.3:p.Cys175Ser
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.555G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.656G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16371G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7674G>C
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5399
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys219Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-182430806-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430806
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430806
    reference: chr 2
allele count: 15
allele frequency: 1.254537243028955e-4
allele num: 119566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.656G>A
  hgvsp: ENSP00000386725.3:p.Cys219Tyr
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.656G>A
  hgvsp: ENSP00000341159.5:p.Cys219Tyr
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.575G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.524G>A
  hgvsp: ENSP00000387080.3:p.Cys175Tyr
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7371G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.555G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7674G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.656G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16371G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7371G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.654G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7371G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7371G>A
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys219Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

2-182430810-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430810
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430810
    reference: chr 2
allele count: 1
allele frequency: 8.359107247345984e-6
allele num: 119630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.520G>A
  hgvsp: ENSP00000387080.3:p.Glu174Lys
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.571G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7375G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.652G>A
  hgvsp: ENSP00000341159.5:p.Glu218Lys
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.551G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7375G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.650G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.652G>A
  hgvsp: ENSP00000386725.3:p.Glu218Lys
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16375G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.652G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7670G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7375G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7375G>A
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu218Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

2-182430813-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430813
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430813
    reference: chr 2
allele count: 6
allele frequency: 5.01362033524408e-5
allele num: 119674
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.548A>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.647A>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.568A>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7667A>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.649A>C
  hgvsp: ENSP00000386725.3:p.Lys217Gln
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.649A>C
  hgvsp: ENSP00000341159.5:p.Lys217Gln
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.517A>C
  hgvsp: ENSP00000387080.3:p.Lys173Gln
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16378A>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.649A>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7378A>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7378A>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7378A>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7378A>C
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys217Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

2-182430828-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430828
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430828
    reference: chr 2
allele count: 4
allele frequency: 3.342972236615575e-5
allele num: 119654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7652G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.632G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.502G>C
  hgvsp: ENSP00000387080.3:p.Ala168Pro
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.634G>C
  hgvsp: ENSP00000341159.5:p.Ala212Pro
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7393G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7393G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7393G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.533G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.553G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.634G>C
  hgvsp: ENSP00000386725.3:p.Ala212Pro
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16393G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.634G>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7393G>C
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11182
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala212Pro
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

2-182430828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430828
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430828
    reference: chr 2
allele count: 1
allele frequency: 8.357430591538938e-6
allele num: 119654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16393G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.553G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7393G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7652G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.634G>A
  hgvsp: ENSP00000341159.5:p.Ala212Thr
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.632G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.533G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.502G>A
  hgvsp: ENSP00000387080.3:p.Ala168Thr
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.634G>A
  hgvsp: ENSP00000386725.3:p.Ala212Thr
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.634G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7393G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7393G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7393G>A
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala212Thr
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-182430829-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430829
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430829
    reference: chr 2
allele count: 8
allele frequency: 6.6875094043101e-5
allele num: 119626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.633C>T
  hgvsp: ENST00000410087.3:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7394C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.631C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7651C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7394C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16394C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.501C>T
  hgvsp: ENST00000409440.3:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7394C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.633C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.532C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.552C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7394C>T
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.633C>T
  hgvsp: ENST00000339098.5:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His211His
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-182430830-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430830
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430830
    reference: chr 2
allele count: 1
allele frequency: 8.359246999030327e-6
allele num: 119628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.632A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.500A>G
  hgvsp: ENSP00000387080.3:p.His167Arg
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.551A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.531A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7395A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7395A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.632A>G
  hgvsp: ENSP00000341159.5:p.His211Arg
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.632A>G
  hgvsp: ENSP00000386725.3:p.His211Arg
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16395A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.630A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7395A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7650A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7395A>G
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His211Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

2-182430835-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430835
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430835
    reference: chr 2
allele count: 1
allele frequency: 8.362742310458446e-6
allele num: 119578
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.627A>G
  hgvsp: ENST00000339098.5:c.627A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7400A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.495A>G
  hgvsp: ENST00000409440.3:c.495A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.625A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16400A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7400A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.546A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7645A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.627A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.627A>G
  hgvsp: ENST00000410087.3:c.627A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7400A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.526A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7400A>G
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu209Glu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-182430843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430843
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430843
    reference: chr 2
allele count: 2
allele frequency: 1.675322499581169e-5
allele num: 119380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.617G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.487G>A
  hgvsp: ENSP00000387080.3:p.Glu163Lys
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.538G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7637G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.518G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.619G>A
  hgvsp: ENSP00000386725.3:p.Glu207Lys
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.619G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16408G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.619G>A
  hgvsp: ENSP00000341159.5:p.Glu207Lys
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7408G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7408G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7408G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7408G>A
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu207Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-182430845-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430845
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430845
    reference: chr 2
allele count: 1
allele frequency: 8.381386616601851e-6
allele num: 119312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.615T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.617T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.516T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.617T>C
  hgvsp: ENSP00000341159.5:p.Met206Thr
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16410T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7410T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.536T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.617T>C
  hgvsp: ENSP00000386725.3:p.Met206Thr
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.485T>C
  hgvsp: ENSP00000387080.3:p.Met162Thr
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7410T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7410T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7635T>C
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7410T>C
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met206Thr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

2-182430853-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430853
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430854
    reference: chr 2
allele count: 4
allele frequency: 3.357169234901131e-5
allele num: 119148
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.612-6dupT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7419dupT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.482-6dupT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.614-6dupT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.614-6dupT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7419dupT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16419dupT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.533-6dupT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.513-6dupT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7419dupT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.614-6dupT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7626dupT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7419dupT
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.614-6dupT
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ

2-182430853-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430853
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430852
    reference: chr 2
allele count: 1
allele frequency: 8.392923087252828e-6
allele num: 119148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7419delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.614-6delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7626delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7419delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.482-6delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.533-6delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.614-6delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.614-6delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.513-6delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7419delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.612-6delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7419delT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16419delT
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.614-6delT
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: TA
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-182430859-A-AAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430859
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430861
    reference: chr 2
allele count: 1
allele frequency: 8.405621679779436e-6
allele num: 118968
alternate allele: AAC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.614-13_614-12dupGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.614-13_614-12dupGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.612-13_612-12dupGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7426_482-7425dupGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.482-13_482-12dupGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7619_613+7620dupGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.513-13_513-12dupGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7426_482-7425dupGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7426_614-7425dupGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16426_482-16425dupGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7426_494-7425dupGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.614-13_614-12dupGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.533-13_533-12dupGT
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/2-182430859-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430859
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430859
    reference: chr 2
allele count: 5
allele frequency: 4.202810839889718e-5
allele num: 118968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7424T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.513-11T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7424T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.482-11T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.612-11T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7424T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.533-11T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7621T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16424T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.614-11T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.614-11T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7424T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.614-11T>G
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30047
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/2-182430859-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430859
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430857
    reference: chr 2
allele count: 2
allele frequency: 1.681124335955887e-5
allele num: 118968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7426_482-7425delGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.482-13_482-12delGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7426_614-7425delGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.533-13_533-12delGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16426_482-16425delGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.614-13_614-12delGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7426_482-7425delGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7619_613+7620delGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.614-13_614-12delGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.614-13_614-12delGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.612-13_612-12delGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7426_494-7425delGT
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.513-13_513-12delGT
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: AAC
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-182430859-AACAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430859
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430855
    reference: chr 2
allele count: 6
allele frequency: 5.043373007867662e-5
allele num: 118968
alternate allele: A
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30047
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11061
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8801
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8386
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 890
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11418
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6550
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: AACAC
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

2-182430863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430863
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430863
    reference: chr 2
allele count: 1
allele frequency: 8.415949908266146e-6
allele num: 118822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7428G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.482-15G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.612-15G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.614-15G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7617G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.614-15G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16428G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.513-15G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.533-15G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7428G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7428G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.614-15G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7428G>A
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

2-182430871-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430871
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430871
    reference: chr 2
allele count: 5
allele frequency: 4.243545567192301e-5
allele num: 117826
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7436A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7436A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.614-23A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.614-23A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.533-23A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7436A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.513-23A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16436A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7436A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.614-23A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7609A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.612-23A>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.482-23A>G
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26845
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-182430873-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430873
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430873
    reference: chr 2
allele count: 1
allele frequency: 8.434263351438885e-6
allele num: 118564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.614-25G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.612-25G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.482-25G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.614-25G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.533-25G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7607G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.614-25G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7438G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7438G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.513-25G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16438G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7438G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7438G>A
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

2-182430875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430875
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430875
    reference: chr 2
allele count: 2
allele frequency: 1.687877662627013e-5
allele num: 118492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.614-27G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7440G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.513-27G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7440G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.533-27G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7440G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.614-27G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16440G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.482-27G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.614-27G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7605G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7440G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.612-27G>A
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-182430876-A-ACAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430876
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430879
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 118426
alternate allele: ACAC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.614-29_614-28insGTG
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7442_614-7441insGTG
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7442_494-7441insGTG
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.614-29_614-28insGTG
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7603_613+7604insGTG
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7442_482-7441insGTG
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.614-29_614-28insGTG
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7442_482-7441insGTG
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.533-29_533-28insGTG
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.482-29_482-28insGTG
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.612-29_612-28insGTG
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16442_482-16441insGTG
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.513-29_513-28insGTG
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 25632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS

http://identifiers.org/exac.variant/2-182430882-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430882
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430882
    reference: chr 2
allele count: 1
allele frequency: 8.501232678738417e-6
allele num: 117630
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16447T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.614-34T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7598T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7447T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7447T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.614-34T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.612-34T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7447T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.533-34T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7447T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.482-34T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.513-34T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.614-34T>G
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21405
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/2-182430890-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430890
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430890
    reference: chr 2
allele count: 4
allele frequency: 3.421435292105038e-5
allele num: 116910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.533-42T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.612-42T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7590T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.614-42T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7455T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7455T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.614-42T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.482-42T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.513-42T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16455T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7455T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7455T>G
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.614-42T>G
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10270
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

2-182430893-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182430893
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182430893
    reference: chr 2
allele count: 1
allele frequency: 8.615045315138358e-6
allele num: 116076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000494398
  gene symbol: CERKL
  hgvsc: ENST00000494398.1:n.614-45G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000466715
  gene symbol: CERKL
  hgvsc: ENST00000466715.1:n.494-7458G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364106
  ensembl transcript: ENST00000374967
  gene symbol: CERKL
  hgvsc: ENST00000374967.2:c.614-7458G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000476070
  gene symbol: CERKL
  hgvsc: ENST00000476070.1:n.513-45G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000341159
  ensembl transcript: ENST00000339098
  gene symbol: CERKL
  hgvsc: ENST00000339098.5:c.614-45G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364108
  ensembl transcript: ENST00000374969
  gene symbol: CERKL
  hgvsc: ENST00000374969.2:c.482-16458G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000364109
  ensembl transcript: ENST00000374970
  gene symbol: CERKL
  hgvsc: ENST00000374970.2:c.613+7587G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000411466
  ensembl transcript: ENST00000421817
  gene symbol: CERKL
  hgvsc: ENST00000421817.1:c.482-7458G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000479558
  gene symbol: CERKL
  hgvsc: ENST00000479558.1:n.612-45G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl transcript: ENST00000460319
  gene symbol: CERKL
  hgvsc: ENST00000460319.1:n.533-45G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000387080
  ensembl transcript: ENST00000409440
  gene symbol: CERKL
  hgvsc: ENST00000409440.3:c.482-45G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000409198
  ensembl transcript: ENST00000452174
  gene symbol: CERKL
  hgvsc: ENST00000452174.1:c.482-7458G>A
  variant of: http://identifiers.org/hgnc/21699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188452
  ensembl protein: ENSP00000386725
  ensembl transcript: ENST00000410087
  gene symbol: CERKL
  hgvsc: ENST00000410087.3:c.614-45G>A
  variant of: http://identifiers.org/hgnc/21699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

GenotypeQuality
all individuals: 2640
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17309
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3897
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3279
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4200
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1912
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7024
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19573
bin: 9.75e1
variant carriers: 13

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.955710675171501e-4
allele num: 66472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.38e-1

QD
type: SiteQuality
SIO_000300: 1.569e1

DP
type: SiteQuality
SIO_000300: 2.474589e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.53e-1

GenotypeQuality
all individuals: 17343
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3281
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2643
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1913
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3897
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7027
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4199
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.12e-2

DP
type: SiteQuality
SIO_000300: 2.4746e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

QD
type: SiteQuality
SIO_000300: 3.05e0

MQRankSum
type: SiteQuality
SIO_000300: -5.407e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e-1

MQ
type: SiteQuality
SIO_000300: 5.08e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

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

GenotypeQuality
all individuals: 1910
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17432
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3280
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4201
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7033
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2644
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19565
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3898
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006614552014432e-5
allele num: 66520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 5.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.645e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.45e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

DP
type: SiteQuality
SIO_000300: 2.475938e6

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17432
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3280
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7033
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2644
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4201
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19565
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3898
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1910
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.021450459652707e-4
allele num: 9790
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66520
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

QD
type: SiteQuality
SIO_000300: 1.193e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.645e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.52e-1

DP
type: SiteQuality
SIO_000300: 2.475938e6

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

FS
type: SiteQuality
SIO_000300: 5.44e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 3898
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2645
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3279
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1909
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19561
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 7036
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4201
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17444
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006253006253006e-5
allele num: 66528
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.021450459652707e-4
allele num: 9790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

FS
type: SiteQuality
SIO_000300: 3.707e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

DP
type: SiteQuality
SIO_000300: 2.476097e6

QD
type: SiteQuality
SIO_000300: 1.086e1

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2642
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19560
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 224
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3897
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3279
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17446
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4200
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7039
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.064977523498161e-4
allele num: 9788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.117e1

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

FS
type: SiteQuality
SIO_000300: 4.622e0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

DP
type: SiteQuality
SIO_000300: 2.476105e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.82e-1

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3280
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4195
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 225
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7033
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19559
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17498
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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MQ
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QD
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InbreedingCoeff
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FS
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MQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

Latino
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African
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South Asian
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Other
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East Asian
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European (Non-Finnish)
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ClippingRankSum
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BaseQRankSum
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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DP
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ReadPosRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

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

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

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

European (Finnish)
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allele 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: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 3.006343384541382e-5
allele num: 66526
num of homozygotes: 0

Other
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Latino
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East Asian
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African
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South Asian
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European (Finnish)
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FS
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QD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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ClippingRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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East Asian
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Other
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European (Non-Finnish)
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South Asian
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European (Finnish)
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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QD
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FS
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VQSLOD
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Finnish)
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African
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Latino
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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DP
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QD
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MQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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African
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South Asian
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European (Finnish)
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East Asian
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Latino
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InbreedingCoeff
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VQSLOD
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QD
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SIO_000300: 1.216e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.118e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.8e-1

FS
type: SiteQuality
SIO_000300: 1.139e0

DP
type: SiteQuality
SIO_000300: 2.47488e6

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 2.049180327868852e-4
allele num: 9760
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.74246384387524e-4
allele num: 11478
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.021557174685374e-5
allele num: 66428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

FS
type: SiteQuality
SIO_000300: 1.156e0

ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 2.474978e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.471e0

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

QD
type: SiteQuality
SIO_000300: 1.149e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-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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GenotypeQuality
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variant carriers: 293

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 1887
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 18
allele frequency: 1.568764162454244e-3
allele num: 11474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

African
type: Population
allele count: 267
allele frequency: 2.738461538461539e-2
allele num: 9750
num of homozygotes: 3

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.204710417733337e-4
allele num: 66406
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.222222222222222e-3
allele num: 900
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.18e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.59e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

MQRankSum
type: SiteQuality
SIO_000300: 3.51e-1

FS
type: SiteQuality
SIO_000300: 5.600000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.85e-2

DP
type: SiteQuality
SIO_000300: 2.492331e6

GenotypeQuality
all individuals: 68
bin: 7.5e0
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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 19411
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variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.181753722524226e-4
allele num: 8462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 2.470275e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

FS
type: SiteQuality
SIO_000300: 8.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

VQSLOD
type: SiteQuality
SIO_000300: 6.55e-1

QD
type: SiteQuality
SIO_000300: 1.373e1

GenotypeQuality
all individuals: 561
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.0275380189067e-4
allele num: 9732
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: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507977199384745e-5
allele num: 66314
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.041e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.16e-1

DP
type: SiteQuality
SIO_000300: 2.468047e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.141e1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508068164681044e-5
allele num: 66310
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.195e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

InbreedingCoeff
type: SiteQuality
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DP
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ClippingRankSum
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

Other
type: Population
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num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513042425709617e-5
allele num: 66092
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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DP
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FS
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BaseQRankSum
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MQRankSum
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MQ
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SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513225591671206e-5
allele num: 66084
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
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FS
type: SiteQuality
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BaseQRankSum
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QD
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-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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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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bin: 8.25e1
variant carriers: 0

South Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.514096235956757e-5
allele num: 66046
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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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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ClippingRankSum
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BaseQRankSum
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QD
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FS
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DP
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InbreedingCoeff
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SIO_000300: 1.6e-3

VQSLOD
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MQ
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SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.57e-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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bin: 6.25e1
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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
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bin: 8.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.514096235956757e-5
allele num: 66046
num of homozygotes: 0

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

Other
type: Population
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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DP
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ClippingRankSum
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VQSLOD
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QD
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BaseQRankSum
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SIO_000300: -4.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 66004
num of homozygotes: 0

Latino
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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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num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.458786e6

MQ
type: SiteQuality
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ClippingRankSum
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SIO_000300: 6.3e-2

MQRankSum
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BaseQRankSum
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FS
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -4.0e-4

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65962
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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allele num: 16476
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -5.0e-4

MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

QD
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SIO_000300: 1.577e1

DP
type: SiteQuality
SIO_000300: 2.456975e6

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65914
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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Other
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MQRankSum
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SIO_000300: 1.6e0

VQSLOD
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ReadPosRankSum
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BaseQRankSum
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FS
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MQ
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DP
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InbreedingCoeff
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele num: 9602
num of homozygotes: 0

South Asian
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allele frequency: 7.901774860199367e-4
allele num: 16452
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.523832744118006e-5
allele num: 65624
num of homozygotes: 0

Other
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Latino
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allele frequency: 0.0e0
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East Asian
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BaseQRankSum
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FS
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ClippingRankSum
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

African
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allele frequency: 2.09819555182543e-4
allele num: 9532
num of homozygotes: 0

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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num of homozygotes: 0

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

Other
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South Asian
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ClippingRankSum
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FS
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MQRankSum
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DP
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VQSLOD
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QD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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South Asian
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East Asian
type: Population
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: 1.532191340054546e-5
allele num: 65266
num of homozygotes: 0

BaseQRankSum
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VQSLOD
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MQ
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FS
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MQRankSum
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SIO_000300: 7.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.551e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

DP
type: SiteQuality
SIO_000300: 2.379796e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e-1

GenotypeQuality
all individuals: 1735
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2608
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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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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2849
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variant carriers: 0

GenotypeQuality
all individuals: 2256
bin: 7.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10674
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5204
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.410835214446952e-4
allele num: 14176
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.874765654293213e-4
allele num: 5334
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

QD
type: SiteQuality
SIO_000300: 1.267e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.863e0

DP
type: SiteQuality
SIO_000300: 1.467249e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2271
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5242
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.406271972999578e-4
allele num: 14222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.162e0

QD
type: SiteQuality
SIO_000300: 1.937e1

DP
type: SiteQuality
SIO_000300: 1.502659e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

GenotypeQuality
all individuals: 15936
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2881
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

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

GenotypeQuality
all individuals: 836
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variant carriers: 0

GenotypeQuality
all individuals: 1559
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.720514919264826e-5
allele num: 53756
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 3.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.22e-1

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

DP
type: SiteQuality
SIO_000300: 1.521025e6

GenotypeQuality
all individuals: 2320
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 1847
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variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53928
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 5.508630187293427e-4
allele num: 5446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10734
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

VQSLOD
type: SiteQuality
SIO_000300: 2.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

MQ
type: SiteQuality
SIO_000300: 5.932e1

FS
type: SiteQuality
SIO_000300: 1.608e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

QD
type: SiteQuality
SIO_000300: 1.667e1

DP
type: SiteQuality
SIO_000300: 1.542195e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-2

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 869
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14574
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.606882168925965e-4
allele num: 7672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55834
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.216589861751152e-5
allele num: 10850
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.636e0

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.267e0

DP
type: SiteQuality
SIO_000300: 1.631062e6

QD
type: SiteQuality
SIO_000300: 1.138e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7143
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8024
num of homozygotes: 0

East Asian
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: 10954
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.667313826099016e-5
allele num: 57688
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14882
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.13e1

MQRankSum
type: SiteQuality
SIO_000300: -3.137e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 9.239000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.761e0

DP
type: SiteQuality
SIO_000300: 1.673042e6

VQSLOD
type: SiteQuality
SIO_000300: 2.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.59e-1

MQ
type: SiteQuality
SIO_000300: 5.352e1

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
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
all individuals: 869
bin: 8.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.545839885143912e-5
allele num: 58508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.463e0

QD
type: SiteQuality
SIO_000300: 1.051e1

MQ
type: SiteQuality
SIO_000300: 5.485e1

VQSLOD
type: SiteQuality
SIO_000300: -3.431e0

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.1203e1

DP
type: SiteQuality
SIO_000300: 1.69188e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-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
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GenotypeQuality
all individuals: 2468
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele frequency: 8.426871608184177e-5
allele num: 59334
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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DP
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QD
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VQSLOD
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SIO_000300: 1.07e0

InbreedingCoeff
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SIO_000300: -1.5e-3

GenotypeQuality
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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.34517766497462e-5
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 9.340000000000001e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.584484725567246e-5
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num of homozygotes: 0

South Asian
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Other
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East Asian
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ClippingRankSum
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SIO_000300: 4.65e-1

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65492
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

South Asian
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allele num: 16382
num of homozygotes: 0

Other
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QD
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BaseQRankSum
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MQ
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MQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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DP
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SIO_000300: 1.795709e6

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

South Asian
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allele frequency: 1.218620521569583e-4
allele num: 16412
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65796
num of homozygotes: 0

Latino
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num of homozygotes: 0

African
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East Asian
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Other
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DP
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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Other
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South Asian
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ReadPosRankSum
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QD
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MQRankSum
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ClippingRankSum
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DP
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VQSLOD
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InbreedingCoeff
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FS
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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African
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Other
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South Asian
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ClippingRankSum
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FS
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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DP
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MQ
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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Latino
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East Asian
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FS
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DP
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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Latino
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South Asian
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MQ
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QD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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FS
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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South Asian
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Latino
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European (Finnish)
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QD
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MQ
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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South Asian
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VQSLOD
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MQRankSum
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DP
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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QD
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FS
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ReadPosRankSum
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MQ
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DP
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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DP
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MQRankSum
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MQ
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FS
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InbreedingCoeff
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VQSLOD
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QD
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BaseQRankSum
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ReadPosRankSum
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European (Non-Finnish)
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African
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East Asian
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FS
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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DP
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MQ
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Other
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Latino
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VQSLOD
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DP
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FS
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InbreedingCoeff
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QD
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MQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Latino
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East Asian
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Other
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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FS
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MQ
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MQRankSum
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ReadPosRankSum
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QD
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Finnish)
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African
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Latino
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South Asian
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European (Non-Finnish)
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MQ
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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FS
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QD
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DP
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InbreedingCoeff
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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DP
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InbreedingCoeff
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QD
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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FS
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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Other
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East Asian
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BaseQRankSum
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ReadPosRankSum
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FS
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MQ
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QD
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Finnish)
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Other
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East Asian
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European (Non-Finnish)
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQ
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MQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65728
num of homozygotes: 0

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

Latino
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allele count: 5
allele frequency: 4.379050621825188e-4
allele num: 11418
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 7.02e-1

MQ
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SIO_000300: 5.79e1

ClippingRankSum
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SIO_000300: -1.2e-2

MQRankSum
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SIO_000300: -1.3e-2

DP
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ReadPosRankSum
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SIO_000300: -4.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

QD
type: SiteQuality
SIO_000300: 1.281e1

GenotypeDepth
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

African
type: Population
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: 6550
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.192463629859289e-4
allele num: 8386
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.521421616358325e-5
allele num: 65728
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.785285e6

ReadPosRankSum
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SIO_000300: -4.13e-1

MQ
type: SiteQuality
SIO_000300: 5.79e1

MQRankSum
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SIO_000300: -1.3e-2

QD
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FS
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VQSLOD
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InbreedingCoeff
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SIO_000300: 2.0e-3

BaseQRankSum
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SIO_000300: 1.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

African
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allele frequency: 6.248698187877526e-4
allele num: 9602
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65728
num of homozygotes: 0

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

ReadPosRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 7.02e-1

VQSLOD
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DP
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SIO_000300: 1.785285e6

BaseQRankSum
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InbreedingCoeff
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SIO_000300: 2.0e-3

MQRankSum
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SIO_000300: -1.3e-2

MQ
type: SiteQuality
SIO_000300: 5.79e1

ClippingRankSum
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SIO_000300: -1.2e-2

GenotypeDepth
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variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65652
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.103515625e-5
allele num: 16384
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.776487e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.163e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.321e-1

FS
type: SiteQuality
SIO_000300: 8.92e-1

QD
type: SiteQuality
SIO_000300: 7.55e0

MQRankSum
type: SiteQuality
SIO_000300: -1.099e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.02e-1

GenotypeDepth
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variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.133786848072562e-3
allele num: 882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.649240551042035e-4
allele num: 11324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537042729787888e-5
allele num: 65060
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9520
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.604e0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

FS
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SIO_000300: 1.627e0

MQ
type: SiteQuality
SIO_000300: 5.604e1

DP
type: SiteQuality
SIO_000300: 1.781557e6

QD
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
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SIO_000300: 1.04e0

ReadPosRankSum
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SIO_000300: -1.467e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526624328285296e-5
allele num: 65504
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6526
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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MQ
type: SiteQuality
SIO_000300: 5.799e1

QD
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BaseQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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SIO_000300: 1.0e-3

VQSLOD
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MQRankSum
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SIO_000300: 1.54e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.772238e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.758087201125176e-4
allele num: 11376
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African
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South Asian
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Other
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
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DP
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QD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9552
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
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South Asian
type: Population
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Other
type: Population
allele count: 0
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Latino
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InbreedingCoeff
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ClippingRankSum
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QD
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MQRankSum
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DP
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MQ
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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FS
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SIO_000300: 1.3895e1

GenotypeDepth
all individuals: 1210
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1425
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2029
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5282
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2979
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8828
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2487
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1906
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22623
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2502
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 8.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.156877231867996e-5
allele num: 16242
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.169e1

FS
type: SiteQuality
SIO_000300: 9.958e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.98e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.387e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e-1

DP
type: SiteQuality
SIO_000300: 1.768314e6

GenotypeDepth
all individuals: 20513
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 916
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 303
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1872
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1732
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1229
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2304
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5070
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20393
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2994
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8802
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2053
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3088
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.238186056367875e-4
allele num: 9438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64520
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16138
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.513e0

DP
type: SiteQuality
SIO_000300: 1.750364e6

QD
type: SiteQuality
SIO_000300: 1.76e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

GenotypeDepth
all individuals: 1208
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 908
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 640
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3031
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1975
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2886
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2391
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3287
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17829
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2000
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8772
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1812
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3099
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4798
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63978
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.239860227130913e-5
allele num: 16026
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.63e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.308e0

DP
type: SiteQuality
SIO_000300: 1.745242e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQ
type: SiteQuality
SIO_000300: 5.883e1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1