1-204110603-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204110603
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204110603
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 32416
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.435-18T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000477125
  gene symbol: ETNK2
  hgvsc: ENST00000477125.1:n.552T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.350-18T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.108-18T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.213-18T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000230550
  ensembl transcript: ENST00000433869
  gene symbol: RP11-74C13.3
  hgvsc: ENST00000433869.1:n.68A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.240-18T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.642-18T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.180-18T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.642-18T>C
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13832
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
hgvs: n.68A>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-204110605-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204110605
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204110605
    reference: chr 1
allele count: 21
allele frequency: 6.948120698782425e-4
allele num: 30224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000477125
  gene symbol: ETNK2
  hgvsc: ENST00000477125.1:n.550C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.180-20C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.642-20C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.240-20C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.435-20C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.642-20C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.350-20C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000230550
  ensembl transcript: ENST00000433869
  gene symbol: RP11-74C13.3
  hgvsc: ENST00000433869.1:n.69+1G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.213-20C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.108-20C>A
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13090
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27968
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 2.5e0
  variant carriers: 1
hgvs: n.69+1G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

1-204110609-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204110609
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204110609
    reference: chr 1
allele count: 1
allele frequency: 3.412503412503413e-5
allele num: 29304
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000230550
  ensembl transcript: ENST00000433869
  gene symbol: RP11-74C13.3
  hgvsc: ENST00000433869.1:n.69+5C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.642-24G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.435-24G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.350-24G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.240-24G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.180-24G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.642-24G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000477125
  gene symbol: ETNK2
  hgvsc: ENST00000477125.1:n.546G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.213-24G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.108-24G>C
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
hgvs: n.69+5C>G
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

1-204115720-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115720
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115720
    reference: chr 1
allele count: 4
allele frequency: 3.323197580712161e-5
allele num: 120366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.349+50C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.212+50C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+3111C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.107+50C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.641+50C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+3111C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.641+50C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.239+50C>T
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25948
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7582
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

1-204115730-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115730
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115730
    reference: chr 1
allele count: 1
allele frequency: 8.298479718515568e-6
allele num: 120504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.239+40A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.107+40A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.349+40A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+3101A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.641+40A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+3101A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.641+40A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.212+40A>G
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

1-204115731-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115731
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115731
    reference: chr 1
allele count: 2
allele frequency: 1.660412446451699e-5
allele num: 120452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.107+39G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.212+39G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.641+39G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.641+39G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+3100G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+3100G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.239+39G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.349+39G>A
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26051
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11038
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7634
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

1-204115733-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115733
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115733
    reference: chr 1
allele count: 1
allele frequency: 8.296827293243064e-6
allele num: 120528
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+3098A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.349+37A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.641+37A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+3098A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.239+37A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.107+37A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.212+37A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.641+37A>G
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

1-204115735-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115735
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115735
    reference: chr 1
allele count: 7
allele frequency: 5.807200929152149e-5
allele num: 120540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.212+35A>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+3096A>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+3096A>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.107+35A>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.349+35A>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.641+35A>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.641+35A>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.239+35A>C
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-204115742-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115742
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115741
    reference: chr 1
allele count: 1
allele frequency: 8.288025460814215e-6
allele num: 120656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.107+27delC
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+3088delC
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.349+27delC
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.641+27delC
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.239+27delC
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.641+27delC
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.212+27delC
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+3088delC
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26291
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11091
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7799
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3041
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: AG
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-204115744-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115744
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115744
    reference: chr 1
allele count: 4
allele frequency: 3.316034685722813e-5
allele num: 120626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.349+26G>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+3087G>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.107+26G>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.239+26G>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+3087G>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.212+26G>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.641+26G>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.641+26G>T
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7023
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-204115749-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115749
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115749
    reference: chr 1
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+3082C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.212+21C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.239+21C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.349+21C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+3082C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.641+21C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.107+21C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.641+21C>T
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

1-204115762-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115762
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115762
    reference: chr 1
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.239+8G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+3069G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.107+8G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.212+8G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.641+8G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.349+8G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+3069G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.641+8G>A
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35489
  bin: 6.25e1
  variant carriers: 0
hgvs: c.641+8G>A
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-204115769-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115769
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115769
    reference: chr 1
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.641+1G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.239+1G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.349+1G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.212+1G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.107+1G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+3062G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.641+1G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+3062G>C
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26904
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7025
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3178
  bin: 7.75e1
  variant carriers: 0
hgvs: c.641+1G>C
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

1-204115769-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115769
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115769
    reference: chr 1
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.107+1G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+3062G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+3062G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.641+1G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.349+1G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.239+1G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.641+1G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.212+1G>A
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 9.25e1
  variant carriers: 0
hgvs: c.641+1G>A
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

1-204115778-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115778
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115778
    reference: chr 1
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.633C>T
  hgvsp: ENST00000367201.3:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.204C>T
  hgvsp: ENST00000452983.1:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.341C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+3053C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.99C>T
  hgvsp: ENST00000367198.2:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+3053C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.633C>T
  hgvsp: ENST00000367202.4:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.231C>T
  hgvsp: ENST00000422699.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile211Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-204115783-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115783
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115783
    reference: chr 1
allele count: 2
allele frequency: 1.648723063986942e-5
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.628G>C
  hgvsp: ENSP00000356169.3:p.Glu210Gln
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.226G>C
  hgvsp: ENSP00000405497.1:p.Glu76Gln
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+3048G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.336G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.94G>C
  hgvsp: ENSP00000356166.2:p.Glu32Gln
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+3048G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.199G>C
  hgvsp: ENSP00000398091.1:p.Glu67Gln
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.628G>C
  hgvsp: ENSP00000356170.4:p.Glu210Gln
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7027
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu210Gln
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-204115783-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115783
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115783
    reference: chr 1
allele count: 6
allele frequency: 4.946169191960826e-5
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.628G>A
  hgvsp: ENSP00000356169.3:p.Glu210Lys
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.226G>A
  hgvsp: ENSP00000405497.1:p.Glu76Lys
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.628G>A
  hgvsp: ENSP00000356170.4:p.Glu210Lys
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.94G>A
  hgvsp: ENSP00000356166.2:p.Glu32Lys
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.336G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+3048G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.199G>A
  hgvsp: ENSP00000398091.1:p.Glu67Lys
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+3048G>A
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27019
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11376
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7027
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Glu210Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

1-204115784-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115784
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115784
    reference: chr 1
allele count: 4
allele frequency: 3.297228679295053e-5
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.627C>T
  hgvsp: ENST00000367202.4:c.627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.627C>T
  hgvsp: ENST00000367201.3:c.627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.198C>T
  hgvsp: ENST00000452983.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.93C>T
  hgvsp: ENST00000367198.2:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.225C>T
  hgvsp: ENST00000422699.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.335C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+3047C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+3047C>T
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn209Asn
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/1-204115796-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115796
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115796
    reference: chr 1
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.213G>T
  hgvsp: ENST00000422699.1:c.213G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+3035G>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.81G>T
  hgvsp: ENST00000367198.2:c.81G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.615G>T
  hgvsp: ENST00000367202.4:c.615G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+3035G>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.323G>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.615G>T
  hgvsp: ENST00000367201.3:c.615G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.186G>T
  hgvsp: ENST00000452983.1:c.186G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7019
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr205Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-204115796-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115796
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115796
    reference: chr 1
allele count: 5
allele frequency: 4.120109430106464e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.186G>A
  hgvsp: ENST00000452983.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.213G>A
  hgvsp: ENST00000422699.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.81G>A
  hgvsp: ENST00000367198.2:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.615G>A
  hgvsp: ENST00000367201.3:c.615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.323G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+3035G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+3035G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.615G>A
  hgvsp: ENST00000367202.4:c.615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35920
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr205Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP

1-204115797-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115797
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115797
    reference: chr 1
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.185C>T
  hgvsp: ENSP00000398091.1:p.Thr62Met
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+3034C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.212C>T
  hgvsp: ENSP00000405497.1:p.Thr71Met
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.614C>T
  hgvsp: ENSP00000356170.4:p.Thr205Met
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.80C>T
  hgvsp: ENSP00000356166.2:p.Thr27Met
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.322C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+3034C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.614C>T
  hgvsp: ENSP00000356169.3:p.Thr205Met
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr205Met
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-204115808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115808
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115808
    reference: chr 1
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.311C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.603C>T
  hgvsp: ENST00000367202.4:c.603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+3023C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.174C>T
  hgvsp: ENST00000452983.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.201C>T
  hgvsp: ENST00000422699.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.69C>T
  hgvsp: ENST00000367198.2:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.603C>T
  hgvsp: ENST00000367201.3:c.603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+3023C>T
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His201His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-204115814-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115814
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115814
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.195G>C
  hgvsp: ENSP00000405497.1:p.Lys65Asn
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+3017G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.597G>C
  hgvsp: ENSP00000356169.3:p.Lys199Asn
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.305G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.597G>C
  hgvsp: ENSP00000356170.4:p.Lys199Asn
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.168G>C
  hgvsp: ENSP00000398091.1:p.Lys56Asn
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.63G>C
  hgvsp: ENSP00000356166.2:p.Lys21Asn
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+3017G>C
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7012
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3196
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys199Asn
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-204115846-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115846
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115846
    reference: chr 1
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2985G>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.31G>T
  hgvsp: ENSP00000356166.2:p.Gly11Cys
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2985G>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.163G>T
  hgvsp: ENSP00000405497.1:p.Gly55Cys
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.136G>T
  hgvsp: ENSP00000398091.1:p.Gly46Cys
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.565G>T
  hgvsp: ENSP00000356170.4:p.Gly189Cys
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.565G>T
  hgvsp: ENSP00000356169.3:p.Gly189Cys
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.273G>T
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly189Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

1-204115847-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115847
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115847
    reference: chr 1
allele count: 15
allele frequency: 1.236419987141232e-4
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2984C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.30C>T
  hgvsp: ENST00000367198.2:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.564C>T
  hgvsp: ENST00000367202.4:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2984C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.135C>T
  hgvsp: ENST00000452983.1:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.564C>T
  hgvsp: ENST00000367201.3:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.272C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.162C>T
  hgvsp: ENST00000422699.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27081
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35920
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn188Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

1-204115852-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115852
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115852
    reference: chr 1
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2979G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.559G>A
  hgvsp: ENSP00000356169.3:p.Ala187Thr
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.559G>A
  hgvsp: ENSP00000356170.4:p.Ala187Thr
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.157G>A
  hgvsp: ENSP00000405497.1:p.Ala53Thr
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.130G>A
  hgvsp: ENSP00000398091.1:p.Ala44Thr
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.25G>A
  hgvsp: ENSP00000356166.2:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.267G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2979G>A
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35909
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala187Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

1-204115853-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115853
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115853
    reference: chr 1
allele count: 10
allele frequency: 8.243887157672586e-5
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.558C>T
  hgvsp: ENST00000367202.4:c.558C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.24C>T
  hgvsp: ENST00000367198.2:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.129C>T
  hgvsp: ENST00000452983.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.266C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.156C>T
  hgvsp: ENST00000422699.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.558C>T
  hgvsp: ENST00000367201.3:c.558C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2978C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2978C>T
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6973
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His186His
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

1-204115855-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115855
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115855
    reference: chr 1
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.264C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.556C>T
  hgvsp: ENSP00000356170.4:p.His186Tyr
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2976C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.556C>T
  hgvsp: ENSP00000356169.3:p.His186Tyr
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.22C>T
  hgvsp: ENSP00000356166.2:p.His8Tyr
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2976C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.127C>T
  hgvsp: ENSP00000398091.1:p.His43Tyr
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.154C>T
  hgvsp: ENSP00000405497.1:p.His52Tyr
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6961
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His186Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-204115862-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115862
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115862
    reference: chr 1
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.549T>C
  hgvsp: ENST00000367202.4:c.549T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2969T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.15T>C
  hgvsp: ENST00000367198.2:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.257T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.549T>C
  hgvsp: ENST00000367201.3:c.549T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.120T>C
  hgvsp: ENST00000452983.1:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.147T>C
  hgvsp: ENST00000422699.1:c.147T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2969T>C
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8056
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His183His
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

1-204115863-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115863
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115863
    reference: chr 1
allele count: 2
allele frequency: 1.649838315845047e-5
allele num: 121224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2968A>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.14A>C
  hgvsp: ENSP00000356166.2:p.His5Pro
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.256A>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.146A>C
  hgvsp: ENSP00000405497.1:p.His49Pro
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.548A>C
  hgvsp: ENSP00000356169.3:p.His183Pro
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.119A>C
  hgvsp: ENSP00000398091.1:p.His40Pro
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.548A>C
  hgvsp: ENSP00000356170.4:p.His183Pro
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2968A>C
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6950
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His183Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

1-204115873-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115873
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115873
    reference: chr 1
allele count: 3
allele frequency: 2.478150968957029e-5
allele num: 121058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2958G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.538G>A
  hgvsp: ENSP00000356170.4:p.Ala180Thr
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.136G>A
  hgvsp: ENSP00000405497.1:p.Ala46Thr
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.538G>A
  hgvsp: ENSP00000356169.3:p.Ala180Thr
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.4G>A
  hgvsp: ENSP00000356166.2:p.Ala2Thr
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.109G>A
  hgvsp: ENSP00000398091.1:p.Ala37Thr
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2958G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.246G>A
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11199
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala180Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

1-204115885-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115885
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115885
    reference: chr 1
allele count: 6
allele frequency: 4.968450340338848e-5
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.97G>A
  hgvsp: ENSP00000398091.1:p.Ala33Thr
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2946G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.234G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2946G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.526G>A
  hgvsp: ENSP00000356170.4:p.Ala176Thr
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-9G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.526G>A
  hgvsp: ENSP00000356169.3:p.Ala176Thr
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.124G>A
  hgvsp: ENSP00000405497.1:p.Ala42Thr
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7810
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala176Thr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-204115886-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115886
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115886
    reference: chr 1
allele count: 2
allele frequency: 1.65694591728526e-5
allele num: 120704
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.525C>T
  hgvsp: ENST00000367202.4:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-10C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.233C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2945C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.96C>T
  hgvsp: ENST00000452983.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.525C>T
  hgvsp: ENST00000367201.3:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.123C>T
  hgvsp: ENST00000422699.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2945C>T
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35206
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile175Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-204115888-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115888
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115888
    reference: chr 1
allele count: 1
allele frequency: 8.290224167661493e-6
allele num: 120624
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.121A>G
  hgvsp: ENSP00000405497.1:p.Ile41Val
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.231A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.94A>G
  hgvsp: ENSP00000398091.1:p.Ile32Val
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.523A>G
  hgvsp: ENSP00000356169.3:p.Ile175Val
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2943A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2943A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-12A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.523A>G
  hgvsp: ENSP00000356170.4:p.Ile175Val
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6893
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile175Val
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: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

1-204115896-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115896
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115896
    reference: chr 1
allele count: 1
allele frequency: 8.320852055250457e-6
allele num: 120180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-4G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-4G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-4G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.90-4G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.223G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-16-4G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2935G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2935G>A
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
hgvs: c.519-4G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-204115898-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115898
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115898
    reference: chr 1
allele count: 2
allele frequency: 1.66433659543306e-5
allele num: 120168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-6C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-6C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.90-6C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-6C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2933C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.221C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-16-6C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2933C>A
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25103
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7008
  bin: 6.75e1
  variant carriers: 0
hgvs: c.519-6C>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-204115907-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115907
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115906
    reference: chr 1
allele count: 1
allele frequency: 8.345712807330875e-6
allele num: 119822
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-16-16delC
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2923delC
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-16delC
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-16delC
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-16delC
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.90-16delC
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.211delC
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2923delC
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23209
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: AG
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

1-204115909-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115909
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115909
    reference: chr 1
allele count: 1
allele frequency: 8.352265134304423e-6
allele num: 119728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2922C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.210C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-17C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-17C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-16-17C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.90-17C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2922C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-17C>A
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22466
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

1-204115915-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115915
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115915
    reference: chr 1
allele count: 3
allele frequency: 2.50949425325816e-5
allele num: 119546
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2916A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-23A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-23A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-16-23A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2916A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.204A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-23A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.90-23A>G
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10756
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6857
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5898
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-204115915-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115915
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115915
    reference: chr 1
allele count: 1
allele frequency: 8.364980844193866e-6
allele num: 119546
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-16-23A>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2916A>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.90-23A>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2916A>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.204A>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-23A>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-23A>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-23A>C
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD

1-204115917-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115917
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115917
    reference: chr 1
allele count: 1
allele frequency: 8.368761088608442e-6
allele num: 119492
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2914C>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.90-25C>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2914C>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.202C>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-25C>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-25C>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-25C>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-16-25C>G
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/1-204115923-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115923
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115923
    reference: chr 1
allele count: 1
allele frequency: 8.392923087252828e-6
allele num: 119148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.90-31G>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2908G>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.196G>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-31G>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-31G>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-31G>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-16-31G>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2908G>T
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10218
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6846
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5132
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-204115934-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115934
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115934
    reference: chr 1
allele count: 32081
allele frequency: 2.750900360144057e-1
allele num: 116620
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-42G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2897G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-16-42G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2897G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.185G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-42G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.90-42G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-42G>A
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.25e1
  variant carriers: 402
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 7.5e0
  variant carriers: 417
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 4.25e1
  variant carriers: 1011
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 3.75e1
  variant carriers: 1675
genotype depth: GenotypeDepth
  all individuals: 13127
  bin: 1.75e1
  variant carriers: 5607
genotype depth: GenotypeDepth
  all individuals: 12857
  bin: 2.25e1
  variant carriers: 6157
genotype depth: GenotypeDepth
  all individuals: 10298
  bin: 2.75e1
  variant carriers: 4738
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 7047
  bin: 1.25e1
  variant carriers: 2536
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 3.25e1
  variant carriers: 2876
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.25e1
  variant carriers: 206
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 9.75e1
  variant carriers: 1073
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 248
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.75e1
  variant carriers: 601
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 1.75e1
  variant carriers: 100
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 5.75e1
  variant carriers: 264
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 9.25e1
  variant carriers: 310
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 2.75e1
  variant carriers: 90
genotype quality: GenotypeQuality
  all individuals: 3484
  bin: 3.75e1
  variant carriers: 256
genotype quality: GenotypeQuality
  all individuals: 7190
  bin: 6.25e1
  variant carriers: 429
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 2.25e1
  variant carriers: 113
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 4.75e1
  variant carriers: 389
num of homozygotes: 4536
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

1-204115955-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115955
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115955
    reference: chr 1
allele count: 1
allele frequency: 1.369525322523213e-5
allele num: 73018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-17+45G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-63G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.89+45G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-63G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2876G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.164G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2876G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-63G>A
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3759
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32978
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

1-204115982-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115982
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115982
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 41202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.89+18C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-90C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2849C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-17+18C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.137C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-90C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-90C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2849C>T
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23333
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25377
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

1-204115983-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115983
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115983
    reference: chr 1
allele count: 1
allele frequency: 2.436647173489279e-5
allele num: 41040
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-91G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.89+17G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-17+17G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-91G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2848G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.136G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-91G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2848G>C
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15535
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25718
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-204115983-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115983
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115983
    reference: chr 1
allele count: 2
allele frequency: 4.873294346978557e-5
allele num: 41040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-91G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-91G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.136G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-91G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-17+17G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2848G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2848G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.89+17G>A
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4547
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9720
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23410
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15535
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

1-204115988-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115988
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115988
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 38108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-17+12G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-96G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-96G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2843G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.89+12G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2843G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.131G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-96G>A
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22686
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17520
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24488
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6124
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

1-204115992-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115992
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115992
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 34986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2839C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.89+8C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-100C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-100C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.127C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-17+8C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2839C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-100C>T
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21643
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19760
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
hgvs: c.-17+8C>T
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

1-204115993-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204115993
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204115993
    reference: chr 1
allele count: 1
allele frequency: 2.858939905083195e-5
allele num: 34978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.126G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2838G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2838G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-101G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-17+7G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-101G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.89+7G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-101G>A
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19876
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22734
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
hgvs: c.-17+7G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

1-204116019-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204116019
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204116019
    reference: chr 1
allele count: 1
allele frequency: 4.138387684158252e-5
allele num: 24164
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-127A>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-127A>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-36A>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.100A>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2812A>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.70A>T
  hgvsp: ENSP00000398091.1:p.Ile24Phe
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2812A>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-127A>T
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5146
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12484
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile24Phe
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum

1-204116025-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204116025
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204116025
    reference: chr 1
allele count: 1
allele frequency: 4.397150646381145e-5
allele num: 22742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.94G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.64G>A
  hgvsp: ENSP00000398091.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-133G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-133G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2806G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-133G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2806G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-42G>A
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4995
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11022
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala22Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-204116027-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204116027
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204116027
    reference: chr 1
allele count: 1
allele frequency: 4.453549478934711e-5
allele num: 22454
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-44T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-135T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-135T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2804T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-135T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.62T>C
  hgvsp: ENSP00000398091.1:p.Leu21Pro
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.92T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2804T>C
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31834
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31599
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu21Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ

1-204116035-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204116035
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204116035
    reference: chr 1
allele count: 1
allele frequency: 4.835122328594914e-5
allele num: 20682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2796T>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-143T>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.84T>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.54T>A
  hgvsp: ENST00000452983.1:c.54T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-143T>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-52T>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2796T>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-143T>A
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32746
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro18Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

1-204116049-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204116049
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204116049
    reference: chr 1
allele count: 2
allele frequency: 1.07654214662504e-4
allele num: 18578
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-66A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2782A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-157A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.70A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-157A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.40A>G
  hgvsp: ENSP00000398091.1:p.Arg14Gly
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2782A>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-157A>G
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32376
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4938
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg14Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-204116053-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204116053
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204116053
    reference: chr 1
allele count: 28
allele frequency: 1.538461538461538e-3
allele num: 18200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-161C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.66C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2778C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-161C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.36C>T
  hgvsp: ENST00000452983.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-161C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2778C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-70C>T
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31690
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5190
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30757
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 9.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4432
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 7.25e1
  variant carriers: 2
hgvs: p.Phe12Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-204116066-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204116066
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204116066
    reference: chr 1
allele count: 1
allele frequency: 5.946010227137591e-5
allele num: 16818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000398091
  ensembl transcript: ENST00000452983
  gene symbol: ETNK2
  hgvsc: ENST00000452983.1:c.23T>C
  hgvsp: ENSP00000398091.1:p.Leu8Pro
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.53T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-174T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2765T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356166
  ensembl transcript: ENST00000367198
  gene symbol: ETNK2
  hgvsc: ENST00000367198.2:c.-83T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-174T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2765T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-174T>C
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu8Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

1-204116095-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204116095
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204116095
    reference: chr 1
allele count: 1
allele frequency: 6.609385327164574e-5
allele num: 15130
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.24A>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2736A>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-203A>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2736A>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-203A>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-203A>C
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

1-204116118-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204116118
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204116118
    reference: chr 1
allele count: 119
allele frequency: 8.123975969415619e-3
allele num: 14648
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143845
  ensembl transcript: ENST00000472340
  gene symbol: ETNK2
  hgvsc: ENST00000472340.1:n.1C>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-226C>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-226C>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2713C>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2713C>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-226C>G
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.5e0
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14756
  bin: 2.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 9.75e1
  variant carriers: 113
genotype quality: GenotypeQuality
  all individuals: 4450
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 10380
  bin: 7.5e0
  variant carriers: 7
num of homozygotes: 7
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

1-204116120-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204116120
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204116119
    reference: chr 1
allele count: 1
allele frequency: 6.847439057792385e-5
allele num: 14604
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-229delG
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2710delG
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-229delG
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.117-229delG
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2710delG
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14763
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4695
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: GC
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS

1-204116538-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204116538
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204116538
    reference: chr 1
allele count: 1
allele frequency: 8.794610662585968e-6
allele num: 113706
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2293C>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-646C>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2293C>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-646C>G
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.116+50C>G
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9836
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4604
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6705
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3648
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

1-204116554-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204116554
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204116554
    reference: chr 1
allele count: 1
allele frequency: 8.765624726074227e-6
allele num: 114082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2277C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2277C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-662C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-662C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.116+34C>T
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15062
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17180
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7309
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

1-204116554-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204116554
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204116554
    reference: chr 1
allele count: 1
allele frequency: 8.765624726074227e-6
allele num: 114082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.116+34C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2277C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-662C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-662C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2277C>A
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7309
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10183
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

1-204116562-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204116562
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204116562
    reference: chr 1
allele count: 1
allele frequency: 8.745998705592191e-6
allele num: 114338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-670T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-670T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2269T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.116+26T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2269T>C
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4170
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10242
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-204116565-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204116565
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204116565
    reference: chr 1
allele count: 1
allele frequency: 8.740341922175995e-6
allele num: 114412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2266C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2266C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.116+23C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-673C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-673C>T
  variant of: http://identifiers.org/hgnc/25575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4212
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genotype quality: GenotypeQuality
  all individuals: 4039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 116
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genotype quality: GenotypeQuality
  all individuals: 19184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5238
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-204116587-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204116587
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204116587
    reference: chr 1
allele count: 2
allele frequency: 1.740674337238246e-5
allele num: 114898
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-695G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2244G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-695G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2244G>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.116+1G>C
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4373
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10408
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
hgvs: c.116+1G>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-204116588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204116588
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204116588
    reference: chr 1
allele count: 2
allele frequency: 1.740674337238246e-5
allele num: 114898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-696G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2243G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-696G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2243G>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.116G>A
  hgvsp: ENSP00000405497.1:p.Arg39Gln
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11876
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10411
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg39Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS

1-204116589-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204116589
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204116589
    reference: chr 1
allele count: 2
allele frequency: 1.740371395255748e-5
allele num: 114918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2242C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2242C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-697C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.115C>T
  hgvsp: ENSP00000405497.1:p.Arg39Trp
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-697C>T
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19530
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg39Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

1-204116593-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204116593
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204116593
    reference: chr 1
allele count: 1
allele frequency: 8.699585899711174e-6
allele num: 114948
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2238T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-701T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-701T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2238T>C
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.111T>C
  hgvsp: ENST00000422699.1:c.111T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5489
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10421
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8026
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19582
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser37Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-204116600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204116600
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204116600
    reference: chr 1
allele count: 1
allele frequency: 8.696710903936131e-6
allele num: 114986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.104C>T
  hgvsp: ENSP00000405497.1:p.Ser35Phe
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2231C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-708C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2231C>T
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-708C>T
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4213
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser35Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

1-204116600-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204116600
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204116600
    reference: chr 1
allele count: 1
allele frequency: 8.696710903936131e-6
allele num: 114986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356169
  ensembl transcript: ENST00000367201
  gene symbol: ETNK2
  hgvsc: ENST00000367201.3:c.519-708C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000405497
  ensembl transcript: ENST00000422699
  gene symbol: ETNK2
  hgvsc: ENST00000422699.1:c.104C>A
  hgvsp: ENSP00000405497.1:p.Ser35Tyr
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000406241
  ensembl transcript: ENST00000444817
  gene symbol: ETNK2
  hgvsc: ENST00000444817.1:c.179+2231C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356167
  ensembl transcript: ENST00000367199
  gene symbol: ETNK2
  hgvsc: ENST00000367199.2:c.434+2231C>A
  variant of: http://identifiers.org/hgnc/25575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143845
  ensembl protein: ENSP00000356170
  ensembl transcript: ENST00000367202
  gene symbol: ETNK2
  hgvsc: ENST00000367202.4:c.519-708C>A
  variant of: http://identifiers.org/hgnc/25575
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4213
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5483
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4379
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser35Tyr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

GenotypeQuality
all individuals: 1245
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6158
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 394
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12398
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27755
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 165
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15710
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

QD
type: SiteQuality
SIO_000300: 1.512e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.51946e5

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

GenotypeQuality
all individuals: 175
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2262
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 458
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1622
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 28273
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 10789
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 344
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 3.25e1
variant carriers: 5

GenotypeQuality
all individuals: 5740
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 151
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 151
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 755
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 739
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 173
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 1.115915748360999e-3
allele num: 14338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1164
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 1.153402537485583e-3
allele num: 3468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.025125628140704e-4
allele num: 1990
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.5291e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.87e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

DP
type: SiteQuality
SIO_000300: 5.39083e5

VQSLOD
type: SiteQuality
SIO_000300: -3.201e0

QD
type: SiteQuality
SIO_000300: 3.7e-1

GenotypeQuality
all individuals: 160
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5532
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1986
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3526
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 9.380863039399625e-4
allele num: 1066
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7940
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.526e0

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.72e-2

DP
type: SiteQuality
SIO_000300: 5.0942e5

QD
type: SiteQuality
SIO_000300: 1.018e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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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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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.321911746112024e-5
allele num: 15818
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.516303856923494e-5
allele num: 66426
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.682e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.149999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

BaseQRankSum
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SIO_000300: -4.407e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

DP
type: SiteQuality
SIO_000300: 1.993953e6

QD
type: SiteQuality
SIO_000300: 1.105e1

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 334
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504890895410083e-5
allele num: 66450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15924
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 9.84e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.62e0

QD
type: SiteQuality
SIO_000300: 1.306e1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 4.829e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.152e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 1.997207e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.259763164525069e-4
allele num: 15876
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.743e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.625e0

VQSLOD
type: SiteQuality
SIO_000300: 6.11e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

FS
type: SiteQuality
SIO_000300: 2.751e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 1.997651e6

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-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
all individuals: 3016
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GenotypeQuality
all individuals: 7026
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66470
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.277463904582549e-5
allele num: 15930
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e0

FS
type: SiteQuality
SIO_000300: 2.333e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.68e-1

MQ
type: SiteQuality
SIO_000300: 5.879e1

QD
type: SiteQuality
SIO_000300: 9.18e0

VQSLOD
type: SiteQuality
SIO_000300: -1.409e0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

DP
type: SiteQuality
SIO_000300: 1.998975e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2456
bin: 7.25e1
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GenotypeQuality
all individuals: 320
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.026356962330004e-5
allele num: 66472
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 5.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

DP
type: SiteQuality
SIO_000300: 2.000106e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.505e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 34572
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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South Asian
type: Population
allele count: 1
allele frequency: 6.242197253433208e-5
allele num: 16020
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.485e0

MQ
type: SiteQuality
SIO_000300: 6.037e1

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

MQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.593360995850622e-4
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
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: 8652
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.251e1

MQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 5.636e0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.008646e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

GenotypeQuality
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variant carriers: 1

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502765087761481e-5
allele num: 66544
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: -9.82e-1

BaseQRankSum
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.129704548240775e-5
allele num: 16314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.022e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.216e0

MQRankSum
type: SiteQuality
SIO_000300: -1.284e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.173e0

FS
type: SiteQuality
SIO_000300: 1.955e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

DP
type: SiteQuality
SIO_000300: 2.024608e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 9.09e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.181e1

FS
type: SiteQuality
SIO_000300: 3.279e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 2.02796e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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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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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 3.279e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.181e1

DP
type: SiteQuality
SIO_000300: 2.02796e6

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 1983
bin: 8.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.48e-2

FS
type: SiteQuality
SIO_000300: 3.877e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.125e0

DP
type: SiteQuality
SIO_000300: 2.030013e6

QD
type: SiteQuality
SIO_000300: 1.411e1

VQSLOD
type: SiteQuality
SIO_000300: -3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.623e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999940001199976e-5
allele num: 66668
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

FS
type: SiteQuality
SIO_000300: 1.094e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

DP
type: SiteQuality
SIO_000300: 2.030895e6

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.331e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

GenotypeQuality
all individuals: 20
bin: 3.25e1
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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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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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.639451655950503e-4
allele num: 16486
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 1.094e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

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: 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: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999940001199976e-5
allele num: 66668
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.929e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.024e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

DP
type: SiteQuality
SIO_000300: 2.031371e6

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South 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: 4
allele frequency: 5.997361161089121e-5
allele num: 66696
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
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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European (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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East Asian
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European (Non-Finnish)
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African
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Latino
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DP
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QD
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MQRankSum
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FS
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ReadPosRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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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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European (Non-Finnish)
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allele frequency: 1.499115521842113e-5
allele num: 66706
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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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East Asian
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allele frequency: 0.0e0
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Latino
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Other
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South Asian
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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VQSLOD
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FS
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QD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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allele frequency: 0.0e0
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Other
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ClippingRankSum
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DP
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ReadPosRankSum
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VQSLOD
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QD
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BaseQRankSum
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MQRankSum
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MQ
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FS
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

East Asian
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allele frequency: 2.31107002542177e-4
allele num: 8654
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South Asian
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allele num: 16504
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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VQSLOD
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MQ
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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MQRankSum
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FS
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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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South Asian
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East Asian
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Latino
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Other
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European (Finnish)
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African
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European (Non-Finnish)
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ClippingRankSum
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MQ
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BaseQRankSum
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DP
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MQRankSum
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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Other
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InbreedingCoeff
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ClippingRankSum
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QD
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ReadPosRankSum
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DP
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MQ
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MQRankSum
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VQSLOD
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FS
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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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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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South Asian
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Other
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MQRankSum
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MQ
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BaseQRankSum
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QD
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VQSLOD
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ClippingRankSum
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DP
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FS
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Other
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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FS
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DP
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ClippingRankSum
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InbreedingCoeff
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QD
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VQSLOD
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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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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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
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GenotypeQuality
all individuals: 974
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.731301939058172e-4
allele num: 11552
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.489e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.68e0

FS
type: SiteQuality
SIO_000300: 7.507e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.81e-1

DP
type: SiteQuality
SIO_000300: 2.023728e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007157033740302e-5
allele num: 66508
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.476e0

DP
type: SiteQuality
SIO_000300: 2.018931e6

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.632e0

QD
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SIO_000300: 1.456e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 7.25e1
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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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.610966057441253e-4
allele num: 11490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.520523175215478e-5
allele num: 66364
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

QD
type: SiteQuality
SIO_000300: 1.315e1

DP
type: SiteQuality
SIO_000300: 2.00412e6

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.015135982632817e-5
allele num: 66332
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 2.015e0

DP
type: SiteQuality
SIO_000300: 2.001368e6

VQSLOD
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.528e1

MQRankSum
type: SiteQuality
SIO_000300: -7.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-1

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 14
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 80
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66284
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.094588005850804e-5
allele num: 16408
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.02e-1

FS
type: SiteQuality
SIO_000300: 1.498e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.044e1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

DP
type: SiteQuality
SIO_000300: 1.996199e6

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
all individuals: 33198
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513500423780119e-5
allele num: 66072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.863e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

DP
type: SiteQuality
SIO_000300: 1.96096e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.32e-1

FS
type: SiteQuality
SIO_000300: 6.307e0

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

GenotypeQuality
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bin: 2.25e1
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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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51372952680815e-5
allele num: 66062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.756567425569177e-5
allele num: 11420
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: 8574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.737e0

MQRankSum
type: SiteQuality
SIO_000300: 9.95e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.958978e6

VQSLOD
type: SiteQuality
SIO_000300: 8.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.324e0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65860
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.140243153628883e-5
allele num: 16286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
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: 1.439e1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.028e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.913154e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 30181
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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
all individuals: 1392
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.146281499692685e-5
allele num: 16270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65810
num of homozygotes: 0

Other
type: Population
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allele num: 898
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.49e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 3.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e-1

DP
type: SiteQuality
SIO_000300: 1.897968e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.86e0

GenotypeQuality
all individuals: 2279
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2499
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1681
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65712
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: 3
allele frequency: 1.848201084277969e-4
allele num: 16232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

FS
type: SiteQuality
SIO_000300: 7.548e0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 1.858894e6

QD
type: SiteQuality
SIO_000300: 1.339e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.22e-1

GenotypeQuality
all individuals: 5898
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 1681
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16232
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: 8532
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.761811792268645e-5
allele num: 10244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65712
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.97e-1

DP
type: SiteQuality
SIO_000300: 1.858894e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

FS
type: SiteQuality
SIO_000300: 7.548e0

QD
type: SiteQuality
SIO_000300: 1.339e1

GenotypeQuality
all individuals: 6851
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 690
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variant carriers: 0

GenotypeQuality
all individuals: 1975
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
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: 8530
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: 1
allele frequency: 9.763718023823472e-5
allele num: 10242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65676
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.258e1

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 5.798e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.004e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.83244e6

GenotypeQuality
all individuals: 2273
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
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variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1971
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variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 798
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variant carriers: 0

GenotypeQuality
all individuals: 1873
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variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.522533495736906e-4
allele num: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16178
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.744e1

VQSLOD
type: SiteQuality
SIO_000300: -1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.016e0

FS
type: SiteQuality
SIO_000300: 3.802e0

MQRankSum
type: SiteQuality
SIO_000300: 3.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

DP
type: SiteQuality
SIO_000300: 1.787389e6

QD
type: SiteQuality
SIO_000300: 9.77e0

GenotypeQuality
all individuals: 285
bin: 1.25e1
variant carriers: 63

GenotypeQuality
all individuals: 2473
bin: 6.75e1
variant carriers: 427

GenotypeQuality
all individuals: 1836
bin: 4.25e1
variant carriers: 174

GenotypeQuality
all individuals: 293
bin: 7.5e0
variant carriers: 79

GenotypeQuality
all individuals: 490
bin: 2.5e0
variant carriers: 63

GenotypeQuality
all individuals: 1545
bin: 5.25e1
variant carriers: 457

GenotypeQuality
all individuals: 1073
bin: 7.25e1
variant carriers: 236

GenotypeQuality
all individuals: 3262
bin: 3.25e1
variant carriers: 220

GenotypeQuality
all individuals: 26893
bin: 9.75e1
variant carriers: 23634

GenotypeQuality
all individuals: 1359
bin: 7.75e1
variant carriers: 392

GenotypeQuality
all individuals: 1039
bin: 8.25e1
variant carriers: 327

GenotypeQuality
all individuals: 549
bin: 8.75e1
variant carriers: 225

South Asian
type: Population
allele count: 3330
allele frequency: 2.087774294670846e-1
allele num: 15950
num of homozygotes: 379

European (Non-Finnish)
type: Population
allele count: 20166
allele frequency: 3.145236758375444e-1
allele num: 64116
num of homozygotes: 3132

European (Finnish)
type: Population
allele count: 2141
allele frequency: 3.333852382435378e-1
allele num: 6422
num of homozygotes: 346

African
type: Population
allele count: 1900
allele frequency: 1.889795106425303e-1
allele num: 10054
num of homozygotes: 185

Latino
type: Population
allele count: 2950
allele frequency: 2.70542920029347e-1
allele num: 10904
num of homozygotes: 352

Other
type: Population
allele count: 261
allele frequency: 2.952488687782805e-1
allele num: 884
num of homozygotes: 45

East Asian
type: Population
allele count: 1333
allele frequency: 1.607961399276236e-1
allele num: 8290
num of homozygotes: 97

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.48e0

QD
type: SiteQuality
SIO_000300: 1.692e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.71e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.764e0

DP
type: SiteQuality
SIO_000300: 1.74176e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

GenotypeQuality
all individuals: 242
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
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variant carriers: 0

GenotypeQuality
all individuals: 362
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variant carriers: 0

GenotypeQuality
all individuals: 127
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variant carriers: 0

GenotypeQuality
all individuals: 2147
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variant carriers: 0

GenotypeQuality
all individuals: 343
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variant carriers: 0

GenotypeQuality
all individuals: 848
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variant carriers: 1

GenotypeQuality
all individuals: 326
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variant carriers: 0

GenotypeQuality
all individuals: 600
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GenotypeQuality
all individuals: 2379
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variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1120
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4910
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.551931812381973e-5
allele num: 39186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5440
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

FS
type: SiteQuality
SIO_000300: 2.769e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.360000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

DP
type: SiteQuality
SIO_000300: 8.94283e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.325e1

GenotypeQuality
all individuals: 1257
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16083
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GenotypeQuality
all individuals: 836
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variant carriers: 0

GenotypeQuality
all individuals: 113
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variant carriers: 0

GenotypeQuality
all individuals: 94
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GenotypeQuality
all individuals: 470
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GenotypeQuality
all individuals: 144
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1522
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variant carriers: 0

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6159
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4062
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

QD
type: SiteQuality
SIO_000300: 1.126e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.959e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.616e1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

DP
type: SiteQuality
SIO_000300: 6.58762e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.24e-2

GenotypeQuality
all individuals: 1479
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.75e1
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GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 118
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.822065772977143e-5
allele num: 20738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4060
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9340
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.57807e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.66e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

QD
type: SiteQuality
SIO_000300: 1.492e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 270
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2760
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.25e1
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GenotypeQuality
all individuals: 1231
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 25718
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
all individuals: 838
bin: 9.75e1
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GenotypeQuality
all individuals: 118
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variant carriers: 0

GenotypeQuality
all individuals: 1534
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 9.644131545954287e-5
allele num: 20738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4060
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

QD
type: SiteQuality
SIO_000300: 1.492e1

MQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

FS
type: SiteQuality
SIO_000300: 7.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.66e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.57807e5

VQSLOD
type: SiteQuality
SIO_000300: 8.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2507
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 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 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

DP
type: SiteQuality
SIO_000300: 6.34864e5

ReadPosRankSum
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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VQSLOD
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FS
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.66e-2

GenotypeQuality
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bin: 2.25e1
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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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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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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

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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num of homozygotes: 0

Latino
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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

VQSLOD
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ClippingRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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FS
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InbreedingCoeff
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MQ
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DP
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SIO_000300: 6.09339e5

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 17224
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

South Asian
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allele num: 8878
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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: 1.041666666666667e-3
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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 (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.25e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -6.02e-2

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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QD
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SIO_000300: 8.130000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.86014e5

MQRankSum
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SIO_000300: -3.62e-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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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9856
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 950
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 568
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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African
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allele count: 1
allele frequency: 4.716981132075472e-4
allele num: 2120
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.43e-2

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.64472e5

BaseQRankSum
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SIO_000300: -3.279e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-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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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 918
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 548
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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: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

African
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allele frequency: 4.743833017077799e-4
allele num: 2108
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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FS
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InbreedingCoeff
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SIO_000300: -6.5e-2

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

South Asian
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European (Non-Finnish)
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Latino
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East Asian
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African
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Other
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European (Finnish)
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VQSLOD
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MQ
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QD
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BaseQRankSum
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FS
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DP
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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East Asian
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African
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South Asian
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Other
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European (Finnish)
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ClippingRankSum
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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QD
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DP
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 391
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.587301587301587e-4
allele num: 6300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.870000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.652e1

DP
type: SiteQuality
SIO_000300: 3.33633e5

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e0

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -2.131e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.668e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.148e0

GenotypeQuality
all individuals: 1150
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3643
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7730
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.803921568627451e-4
allele num: 1020
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.048e0

VQSLOD
type: SiteQuality
SIO_000300: -2.193e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.84e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.688e0

DP
type: SiteQuality
SIO_000300: 2.77908e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

QD
type: SiteQuality
SIO_000300: 1.352e1

MQRankSum
type: SiteQuality
SIO_000300: -8.36e-1

GenotypeQuality
all individuals: 913
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2628
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 902
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 211
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 309
bin: 7.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

African
type: Population
allele count: 113
allele frequency: 1.186974789915966e-1
allele num: 952
num of homozygotes: 7

Other
type: Population
allele count: 1
allele frequency: 6.578947368421052e-3
allele num: 152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.986491855383393e-4
allele num: 5034
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.228758169934641e-4
allele num: 7650
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.51396e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.01e-2

FS
type: SiteQuality
SIO_000300: 6.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

QD
type: SiteQuality
SIO_000300: 1.49e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeQuality
all individuals: 866
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2456
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 924
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.908396946564885e-3
allele num: 524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5016
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.95e-2

MQ
type: SiteQuality
SIO_000300: 6.02e1

QD
type: SiteQuality
SIO_000300: 1.511e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.253e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e-1

DP
type: SiteQuality
SIO_000300: 2.48124e5

FS
type: SiteQuality
SIO_000300: 3.051e0

GenotypeQuality
all individuals: 2523
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10171
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2086
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2661
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2617
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.198859409868585e-5
allele num: 16132
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.654395e6

MQRankSum
type: SiteQuality
SIO_000300: -1.075e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 1.706e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.731000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.075e0

GenotypeQuality
all individuals: 515
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3949
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10183
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 557
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4913
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.605291039265419e-5
allele num: 62294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.625e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 4.017e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

DP
type: SiteQuality
SIO_000300: 1.702599e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.31e0

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

GenotypeQuality
all individuals: 2155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4913
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2688
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17180
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.188884762965714e-5
allele num: 16158
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.625e-1

FS
type: SiteQuality
SIO_000300: 4.017e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 1.702599e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

GenotypeQuality
all individuals: 418
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2764
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18781
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.181233774261343e-5
allele num: 16178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.57e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.35e-1

FS
type: SiteQuality
SIO_000300: 2.044e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.54e-1

DP
type: SiteQuality
SIO_000300: 1.730144e6

QD
type: SiteQuality
SIO_000300: 8.130000000000001e0

GenotypeQuality
all individuals: 241
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 7732
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.785802143735723e-5
allele num: 11382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.736706e6

QD
type: SiteQuality
SIO_000300: 1.181e1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.088e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.952e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.08e-1

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5493
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4202
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2865
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.356823002592505e-4
allele num: 8486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62768
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.830000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.52e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.172e1

MQRankSum
type: SiteQuality
SIO_000300: 9.86e-1

DP
type: SiteQuality
SIO_000300: 1.76351e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

FS
type: SiteQuality
SIO_000300: 5.809e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

GenotypeQuality
all individuals: 19540
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 4201
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.186540054808489e-5
allele num: 62764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.21e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

DP
type: SiteQuality
SIO_000300: 1.763974e6

VQSLOD
type: SiteQuality
SIO_000300: -2.407e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 1.5462e1

GenotypeQuality
all individuals: 4374
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2867
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.749169144656288e-4
allele num: 11434
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
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: 16260
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62784
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

QD
type: SiteQuality
SIO_000300: 1.187e1

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e0

DP
type: SiteQuality
SIO_000300: 1.764384e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

GenotypeQuality
all individuals: 2319
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4377
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4214
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62794
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.739730816290858e-5
allele num: 11442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

QD
type: SiteQuality
SIO_000300: 1.174e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.993e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

DP
type: SiteQuality
SIO_000300: 1.764822e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.71e-1

GenotypeQuality
all individuals: 5483
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2320
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10424
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.148548942449582e-5
allele num: 16264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62826
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.279e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

DP
type: SiteQuality
SIO_000300: 1.765377e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

FS
type: SiteQuality
SIO_000300: 6.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.056e0

GenotypeQuality
all individuals: 2868
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8020
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10424
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.59169770477191e-5
allele num: 62826
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.056e0

FS
type: SiteQuality
SIO_000300: 6.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.67e-1