17-79202740-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202740
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202740
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 117398
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1566C>G
  hgvsp: ENSP00000300714.3:p.Phe522Leu
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1314C>G
  hgvsp: ENSP00000363901.2:p.Phe438Leu
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2981C>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.234G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1889C>G
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6138
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39728
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe522Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-79202743-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202743
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202743
    reference: chr 17
allele count: 1
allele frequency: 8.497187430960352e-6
allele num: 117686
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1563G>T
  hgvsp: ENST00000300714.3:c.1563G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.237C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1311G>T
  hgvsp: ENST00000374769.2:c.1311G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2978G>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1886G>T
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala521Ala
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

17-79202743-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202743
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202743
    reference: chr 17
allele count: 393
allele frequency: 3.339394660367418e-3
allele num: 117686
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1563G>A
  hgvsp: ENST00000300714.3:c.1563G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1311G>A
  hgvsp: ENST00000374769.2:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.237C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1886G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2978G>A
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 3.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35802
  bin: 2.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 12182
  bin: 2.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5438
  bin: 9.75e1
  variant carriers: 376
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.25e1
  variant carriers: 4
hgvs: p.Ala521Ala
num of homozygotes: 11
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

17-79202744-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202744
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202744
    reference: chr 17
allele count: 1
allele frequency: 8.490405841399219e-6
allele num: 117780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1885C>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1310C>T
  hgvsp: ENSP00000363901.2:p.Ala437Val
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1562C>T
  hgvsp: ENSP00000300714.3:p.Ala521Val
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2977C>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.238G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5150
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala521Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-79202744-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202744
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202744
    reference: chr 17
allele count: 1
allele frequency: 8.490405841399219e-6
allele num: 117780
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1562C>A
  hgvsp: ENSP00000300714.3:p.Ala521Glu
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2977C>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.238G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1885C>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1310C>A
  hgvsp: ENSP00000363901.2:p.Ala437Glu
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5150
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala521Glu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

17-79202745-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202745
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202745
    reference: chr 17
allele count: 11
allele frequency: 9.334057429909714e-5
allele num: 117848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2976G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.239C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1884G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1309G>A
  hgvsp: ENSP00000363901.2:p.Ala437Thr
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1561G>A
  hgvsp: ENSP00000300714.3:p.Ala521Thr
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39856
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala521Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-79202746-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202746
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202746
    reference: chr 17
allele count: 1
allele frequency: 8.479606546256254e-6
allele num: 117930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1308C>T
  hgvsp: ENST00000374769.2:c.1308C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1560C>T
  hgvsp: ENST00000300714.3:c.1560C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.240G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1883C>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2975C>T
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6207
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5153
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Phe520Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ

17-79202753-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202753
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202753
    reference: chr 17
allele count: 1
allele frequency: 8.454228805248384e-6
allele num: 118284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1301C>A
  hgvsp: ENSP00000363901.2:p.Ser434Ter
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2968C>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1553C>A
  hgvsp: ENSP00000300714.3:p.Ser518Ter
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1876C>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.247G>T
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5153
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser518Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

17-79202755-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202755
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202755
    reference: chr 17
allele count: 3
allele frequency: 2.535025603758598e-5
allele num: 118342
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1551G>A
  hgvsp: ENST00000300714.3:c.1551G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.249C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1299G>A
  hgvsp: ENST00000374769.2:c.1299G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2966G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1874G>A
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5158
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40303
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro517Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

17-79202756-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202756
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202756
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 118400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1873C>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2965C>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.250G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1298C>T
  hgvsp: ENSP00000363901.2:p.Pro433Leu
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1550C>T
  hgvsp: ENSP00000300714.3:p.Pro517Leu
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5156
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro517Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

17-79202758-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202758
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202758
    reference: chr 17
allele count: 1
allele frequency: 8.442095665828085e-6
allele num: 118454
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1548G>C
  hgvsp: ENSP00000300714.3:p.Glu516Asp
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1296G>C
  hgvsp: ENSP00000363901.2:p.Glu432Asp
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2963G>C
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1871G>C
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.252C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5156
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6277
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu516Asp
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

17-79202769-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202769
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202769
    reference: chr 17
allele count: 1
allele frequency: 8.42800795603951e-6
allele num: 118652
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.263G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1285C>T
  hgvsp: ENSP00000363901.2:p.Pro429Ser
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1860C>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1537C>T
  hgvsp: ENSP00000300714.3:p.Pro513Ser
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2952C>T
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5155
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro513Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

17-79202777-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202777
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202777
    reference: chr 17
allele count: 3
allele frequency: 2.527976270729405e-5
allele num: 118672
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1852A>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1277A>G
  hgvsp: ENSP00000363901.2:p.Lys426Arg
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2944A>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1529A>G
  hgvsp: ENSP00000300714.3:p.Lys510Arg
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.271T>C
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys510Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-79202778-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202778
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202778
    reference: chr 17
allele count: 1
allele frequency: 8.425877555147369e-6
allele num: 118682
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1851A>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.272T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2943A>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1528A>G
  hgvsp: ENSP00000300714.3:p.Lys510Glu
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1276A>G
  hgvsp: ENSP00000363901.2:p.Lys426Glu
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 12698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5154
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys510Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-79202783-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202783
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202783
    reference: chr 17
allele count: 4
allele frequency: 3.370919081087459e-5
allele num: 118662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2938C>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1523C>A
  hgvsp: ENSP00000300714.3:p.Ala508Glu
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1846C>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1271C>A
  hgvsp: ENSP00000363901.2:p.Ala424Glu
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.277G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5156
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39551
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala508Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-79202788-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202788
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202788
    reference: chr 17
allele count: 1
allele frequency: 8.427013634908062e-6
allele num: 118666
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.282C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1266G>A
  hgvsp: ENST00000374769.2:c.1266G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2933G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1518G>A
  hgvsp: ENST00000300714.3:c.1518G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1841G>A
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5155
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg506Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

17-79202795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202795
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202795
    reference: chr 17
allele count: 1
allele frequency: 8.42133629764371e-6
allele num: 118746
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1511C>T
  hgvsp: ENSP00000300714.3:p.Ser504Phe
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1259C>T
  hgvsp: ENSP00000363901.2:p.Ser420Phe
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2926C>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1834C>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.289G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39739
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5155
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser504Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

17-79202797-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202797
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202797
    reference: chr 17
allele count: 1
allele frequency: 8.422187410514259e-6
allele num: 118734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1257G>A
  hgvsp: ENST00000374769.2:c.1257G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.291C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1509G>A
  hgvsp: ENST00000300714.3:c.1509G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1832G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2924G>A
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39739
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser503Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

17-79202798-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202798
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202798
    reference: chr 17
allele count: 2
allele frequency: 1.684040349606777e-5
allele num: 118762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1256C>T
  hgvsp: ENSP00000363901.2:p.Ser419Leu
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2923C>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1831C>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.292G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1508C>T
  hgvsp: ENSP00000300714.3:p.Ser503Leu
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser503Leu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

17-79202800-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202800
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202800
    reference: chr 17
allele count: 427
allele frequency: 3.595123429764591e-3
allele num: 118772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1829A>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1254A>G
  hgvsp: ENST00000374769.2:c.1254A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.294T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2921A>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1506A>G
  hgvsp: ENST00000300714.3:c.1506A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 9.75e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 34625
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 12841
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr502Thr
num of homozygotes: 7
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

17-79202804-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202804
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202805
    reference: chr 17
allele count: 2
allele frequency: 1.68602788690125e-5
allele num: 118622
alternate allele: TG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1501dupC
  hgvsp: ENSP00000300714.3:p.Gln501ProfsTer53
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1249dupC
  hgvsp: ENSP00000363901.2:p.Gln417ProfsTer53
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2916dupC
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1824dupC
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.304dupG
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 34438
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6188
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln501ProfsTer53
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS

17-79202806-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202806
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202806
    reference: chr 17
allele count: 5
allele frequency: 4.214288122450356e-5
allele num: 118644
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1823C>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2915C>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.300G>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1500C>G
  hgvsp: ENST00000300714.3:c.1500C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1248C>G
  hgvsp: ENST00000374769.2:c.1248C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38998
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro500Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-79202808-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202808
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202808
    reference: chr 17
allele count: 1
allele frequency: 8.427297702718647e-6
allele num: 118662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2913C>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1246C>G
  hgvsp: ENSP00000363901.2:p.Pro416Ala
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1498C>G
  hgvsp: ENSP00000300714.3:p.Pro500Ala
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1821C>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.302G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro500Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-79202810-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202810
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202810
    reference: chr 17
allele count: 5
allele frequency: 4.214643356879141e-5
allele num: 118634
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.304G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1244C>T
  hgvsp: ENSP00000363901.2:p.Ala415Val
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1819C>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1496C>T
  hgvsp: ENSP00000300714.3:p.Ala499Val
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2911C>T
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12948
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5190
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 39035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala499Val
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

17-79202811-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202811
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202811
    reference: chr 17
allele count: 1
allele frequency: 8.429855175088092e-6
allele num: 118626
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2910G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.305C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1495G>A
  hgvsp: ENSP00000300714.3:p.Ala499Thr
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1243G>A
  hgvsp: ENSP00000363901.2:p.Ala415Thr
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1818G>A
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5187
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39048
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6154
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala499Thr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-79202812-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202812
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202812
    reference: chr 17
allele count: 13
allele frequency: 1.095825746847394e-4
allele num: 118632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1242C>T
  hgvsp: ENST00000374769.2:c.1242C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.306G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1494C>T
  hgvsp: ENST00000300714.3:c.1494C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1817C>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2909C>T
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12998
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg498Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

17-79202812-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202812
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202812
    reference: chr 17
allele count: 6
allele frequency: 5.057657293141817e-5
allele num: 118632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1242C>A
  hgvsp: ENST00000374769.2:c.1242C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1494C>A
  hgvsp: ENST00000300714.3:c.1494C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1817C>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.306G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2909C>A
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5200
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg498Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

17-79202813-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202813
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202813
    reference: chr 17
allele count: 5
allele frequency: 4.216349316108141e-5
allele num: 118586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1816G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1493G>A
  hgvsp: ENSP00000300714.3:p.Arg498His
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.307C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1241G>A
  hgvsp: ENSP00000363901.2:p.Arg414His
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2908G>A
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg498His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

17-79202814-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202814
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202814
    reference: chr 17
allele count: 7
allele frequency: 5.900600175332119e-5
allele num: 118632
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1492C>T
  hgvsp: ENSP00000300714.3:p.Arg498Cys
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.308G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1815C>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2907C>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1240C>T
  hgvsp: ENSP00000363901.2:p.Arg414Cys
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6165
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5190
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg498Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

17-79202815-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202815
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202815
    reference: chr 17
allele count: 2
allele frequency: 1.685715248980142e-5
allele num: 118644
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2906C>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1239C>G
  hgvsp: ENST00000374769.2:c.1239C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1814C>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.309G>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1491C>G
  hgvsp: ENST00000300714.3:c.1491C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39197
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5186
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6171
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro497Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

17-79202816-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202816
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202816
    reference: chr 17
allele count: 1
allele frequency: 8.426587569098018e-6
allele num: 118672
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2905C>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1490C>G
  hgvsp: ENSP00000300714.3:p.Pro497Arg
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1238C>G
  hgvsp: ENSP00000363901.2:p.Pro413Arg
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.310G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1813C>G
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro497Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

17-79202818-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202818
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202818
    reference: chr 17
allele count: 1
allele frequency: 8.428292090890703e-6
allele num: 118648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1811T>C
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2903T>C
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1236T>C
  hgvsp: ENST00000374769.2:c.1236T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.312A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1488T>C
  hgvsp: ENST00000300714.3:c.1488T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5187
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala496Ala
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

17-79202823-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202823
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202823
    reference: chr 17
allele count: 1
allele frequency: 8.430281571404485e-6
allele num: 118620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2898G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1231G>A
  hgvsp: ENSP00000363901.2:p.Asp411Asn
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.317C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1483G>A
  hgvsp: ENSP00000300714.3:p.Asp495Asn
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1806G>A
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6167
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5186
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp495Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

17-79202824-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202824
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202824
    reference: chr 17
allele count: 3
allele frequency: 2.528615498727263e-5
allele num: 118642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1805T>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1230T>A
  hgvsp: ENST00000374769.2:c.1230T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.318A>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1482T>A
  hgvsp: ENST00000300714.3:c.1482T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2897T>A
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro494Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

17-79202827-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202827
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202827
    reference: chr 17
allele count: 1
allele frequency: 8.429002511842749e-6
allele num: 118638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1227T>C
  hgvsp: ENST00000374769.2:c.1227T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1802T>C
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.321A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1479T>C
  hgvsp: ENST00000300714.3:c.1479T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2894T>C
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5187
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys493Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/17-79202832-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202832
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202832
    reference: chr 17
allele count: 1
allele frequency: 8.434547908232118e-6
allele num: 118560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1797T>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1474T>G
  hgvsp: ENSP00000300714.3:p.Ser492Ala
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.326A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1222T>G
  hgvsp: ENSP00000363901.2:p.Ser408Ala
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2889T>G
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser492Ala
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: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

17-79202839-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202839
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202839
    reference: chr 17
allele count: 13
allele frequency: 1.097768995625813e-4
allele num: 118422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1215G>A
  hgvsp: ENST00000374769.2:c.1215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1467G>A
  hgvsp: ENST00000300714.3:c.1467G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1790G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2882G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.333C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33714
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13030
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5198
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38691
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala489Ala
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

17-79202840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202840
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202840
    reference: chr 17
allele count: 2
allele frequency: 1.688390626055244e-5
allele num: 118456
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1466C>T
  hgvsp: ENSP00000300714.3:p.Ala489Val
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1214C>T
  hgvsp: ENSP00000363901.2:p.Ala405Val
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.334G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2881C>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1789C>T
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38829
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala489Val
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

17-79202841-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202841
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202841
    reference: chr 17
allele count: 557
allele frequency: 4.701612222503588e-3
allele num: 118470
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1465G>A
  hgvsp: ENSP00000300714.3:p.Ala489Thr
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.335C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2880G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1788G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1213G>A
  hgvsp: ENSP00000363901.2:p.Ala405Thr
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 12980
  bin: 2.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 1.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 33424
  bin: 2.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 9.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 38314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5680
  bin: 9.75e1
  variant carriers: 535
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Ala489Thr
num of homozygotes: 16
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

17-79202843-G-GCAGCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202843
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202849
    reference: chr 17
allele count: 22
allele frequency: 1.857166976194496e-4
allele num: 118460
alternate allele: GCAGCCC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1205_1210dupGGGCTG
  hgvsp: ENSP00000363901.2:p.Gly402_Ala403dup
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1780_1785dupGGGCTG
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1457_1462dupGGGCTG
  hgvsp: ENSP00000300714.3:p.Gly486_Ala487dup
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2872_2877dupGGGCTG
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.345_350dupAGCCCC
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33523
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13204
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38831
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly486_Ala487dup
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

17-79202848-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202848
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202848
    reference: chr 17
allele count: 1
allele frequency: 8.43340979624882e-6
allele num: 118576
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1458G>C
  hgvsp: ENST00000300714.3:c.1458G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2873G>C
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1206G>C
  hgvsp: ENST00000374769.2:c.1206G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.342C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1781G>C
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5189
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly486Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

17-79202848-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202848
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202848
    reference: chr 17
allele count: 1
allele frequency: 8.43340979624882e-6
allele num: 118576
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1458G>A
  hgvsp: ENST00000300714.3:c.1458G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1781G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1206G>A
  hgvsp: ENST00000374769.2:c.1206G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.342C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2873G>A
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly486Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

17-79202852-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202852
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202852
    reference: chr 17
allele count: 2
allele frequency: 1.687222662774806e-5
allele num: 118538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1777C>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.346G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1202C>T
  hgvsp: ENSP00000363901.2:p.Ala401Val
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1454C>T
  hgvsp: ENSP00000300714.3:p.Ala485Val
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2869C>T
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5191
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6225
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala485Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

17-79202852-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202852
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202851
    reference: chr 17
allele count: 1
allele frequency: 8.436113313874031e-6
allele num: 118538
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1776delG
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.351delC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1201delG
  hgvsp: ENSP00000363901.2:p.Ala401LeufsTer39
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1453delG
  hgvsp: ENSP00000300714.3:p.Ala485LeufsTer39
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2868delG
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13426
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala485LeufsTer39
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: GC
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

17-79202861-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202861
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202861
    reference: chr 17
allele count: 1
allele frequency: 8.439388313135065e-6
allele num: 118492
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1768T>C
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1193T>C
  hgvsp: ENSP00000363901.2:p.Leu398Pro
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1445T>C
  hgvsp: ENSP00000300714.3:p.Leu482Pro
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.355A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2860T>C
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu482Pro
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP

17-79202862-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202862
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202862
    reference: chr 17
allele count: 10
allele frequency: 8.438391305081599e-5
allele num: 118506
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1767C>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2859C>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1192C>G
  hgvsp: ENSP00000363901.2:p.Leu398Val
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.356G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1444C>G
  hgvsp: ENSP00000300714.3:p.Leu482Val
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33612
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5190
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu482Val
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

17-79202864-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202864
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202864
    reference: chr 17
allele count: 3
allele frequency: 2.531431946671167e-5
allele num: 118510
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2857G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1442G>A
  hgvsp: ENSP00000300714.3:p.Arg481His
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1190G>A
  hgvsp: ENSP00000363901.2:p.Arg397His
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.358C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1765G>A
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg481His
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

17-79202865-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202865
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202865
    reference: chr 17
allele count: 10
allele frequency: 8.434547908232118e-5
allele num: 118560
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.359G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1441C>T
  hgvsp: ENSP00000300714.3:p.Arg481Cys
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1189C>T
  hgvsp: ENSP00000363901.2:p.Arg397Cys
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2856C>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1764C>T
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg481Cys
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: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-79202872-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202872
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202872
    reference: chr 17
allele count: 11
allele frequency: 9.275655620204065e-5
allele num: 118590
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1434C>T
  hgvsp: ENST00000300714.3:c.1434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.366G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1182C>T
  hgvsp: ENST00000374769.2:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1757C>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2849C>T
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5193
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala478Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-79202872-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202872
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202872
    reference: chr 17
allele count: 1
allele frequency: 8.432414200185513e-6
allele num: 118590
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2849C>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1182C>G
  hgvsp: ENST00000374769.2:c.1182C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1434C>G
  hgvsp: ENST00000300714.3:c.1434C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.366G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1757C>G
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39701
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5193
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala478Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS

17-79202873-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202873
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202873
    reference: chr 17
allele count: 22
allele frequency: 1.855537937316555e-4
allele num: 118564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1181C>A
  hgvsp: ENSP00000363901.2:p.Ala394Asp
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.367G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1433C>A
  hgvsp: ENSP00000300714.3:p.Ala478Asp
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2848C>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1756C>A
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6253
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39716
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5203
  bin: 9.75e1
  variant carriers: 22
hgvs: p.Ala478Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

17-79202873-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202873
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202873
    reference: chr 17
allele count: 1
allele frequency: 8.434263351438885e-6
allele num: 118564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1181C>G
  hgvsp: ENSP00000363901.2:p.Ala394Gly
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.367G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1756C>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2848C>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1433C>G
  hgvsp: ENSP00000300714.3:p.Ala478Gly
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39716
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala478Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-79202874-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202874
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202874
    reference: chr 17
allele count: 4
allele frequency: 3.373591525538088e-5
allele num: 118568
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1432G>A
  hgvsp: ENSP00000300714.3:p.Ala478Thr
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.368C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1180G>A
  hgvsp: ENSP00000363901.2:p.Ala394Thr
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2847G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1755G>A
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6244
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala478Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

17-79202896-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202896
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202896
    reference: chr 17
allele count: 1
allele frequency: 8.457517887650332e-6
allele num: 118238
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.390C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1158G>A
  hgvsp: ENST00000374769.2:c.1158G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1733G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2825G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1410G>A
  hgvsp: ENST00000300714.3:c.1410G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5188
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu470Leu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-79202901-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202901
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202901
    reference: chr 17
allele count: 1
allele frequency: 8.461811843151855e-6
allele num: 118178
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1405T>G
  hgvsp: ENSP00000300714.3:p.Ser469Ala
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1728T>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2820T>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.395A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1153T>G
  hgvsp: ENSP00000363901.2:p.Ser385Ala
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5187
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser469Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-79202903-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202903
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202903
    reference: chr 17
allele count: 1
allele frequency: 8.469121582709441e-6
allele num: 118076
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.397T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1726A>C
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1403A>C
  hgvsp: ENSP00000300714.3:p.Asp468Ala
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1151A>C
  hgvsp: ENSP00000363901.2:p.Asp384Ala
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2818A>C
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32570
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6094
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp468Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-79202904-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202904
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202904
    reference: chr 17
allele count: 2
allele frequency: 1.696755802904846e-5
allele num: 117872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1150G>A
  hgvsp: ENSP00000363901.2:p.Asp384Asn
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1725G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1402G>A
  hgvsp: ENSP00000300714.3:p.Asp468Asn
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2817G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.398C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5954
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5188
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp468Asn
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum

17-79202905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202905
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202905
    reference: chr 17
allele count: 3
allele frequency: 2.544917799155087e-5
allele num: 117882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1149C>T
  hgvsp: ENST00000374769.2:c.1149C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.399G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1401C>T
  hgvsp: ENST00000300714.3:c.1401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2816C>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1724C>T
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5968
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg467Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

17-79202906-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202906
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202906
    reference: chr 17
allele count: 2
allele frequency: 1.696554298220315e-5
allele num: 117886
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2815G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1148G>A
  hgvsp: ENSP00000363901.2:p.Arg383His
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.400C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1723G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1400G>A
  hgvsp: ENSP00000300714.3:p.Arg467His
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5971
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37419
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg467His
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-79202907-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202907
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202907
    reference: chr 17
allele count: 1
allele frequency: 8.482051978014521e-6
allele num: 117896
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1399C>G
  hgvsp: ENSP00000300714.3:p.Arg467Gly
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1147C>G
  hgvsp: ENSP00000363901.2:p.Arg383Gly
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.401G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2814C>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1722C>G
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32245
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5188
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37749
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5981
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg467Gly
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-79202914-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202914
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202914
    reference: chr 17
allele count: 38
allele frequency: 3.230358569801248e-4
allele num: 117634
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1392G>A
  hgvsp: ENST00000300714.3:c.1392G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2807G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1140G>A
  hgvsp: ENST00000374769.2:c.1140G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1715G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.408C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12889
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5921
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5209
  bin: 9.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 36444
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala464Ala
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-79202918-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202918
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202918
    reference: chr 17
allele count: 3
allele frequency: 2.552322613578356e-5
allele num: 117540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2803G>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1136G>T
  hgvsp: ENSP00000363901.2:p.Cys379Phe
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1711G>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.412C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1388G>T
  hgvsp: ENSP00000300714.3:p.Cys463Phe
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5199
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys463Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

17-79202933-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202933
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202933
    reference: chr 17
allele count: 1
allele frequency: 8.527184664711099e-6
allele num: 117272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2788G>C
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1373G>C
  hgvsp: ENSP00000300714.3:p.Arg458Thr
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1696G>C
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.427C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1121G>C
  hgvsp: ENSP00000363901.2:p.Arg374Thr
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12712
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34442
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg458Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-79202937-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202937
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202937
    reference: chr 17
allele count: 80
allele frequency: 6.823493287388478e-4
allele num: 117242
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1369A>G
  hgvsp: ENSP00000300714.3:p.Lys457Glu
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.431T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1692A>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1117A>G
  hgvsp: ENSP00000363901.2:p.Lys373Glu
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2784A>G
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12672
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 30310
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34524
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5277
  bin: 9.75e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5877
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Lys457Glu
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

17-79202945-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202945
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202945
    reference: chr 17
allele count: 3
allele frequency: 2.564146395664883e-5
allele num: 116998
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2776A>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1109A>G
  hgvsp: ENSP00000363901.2:p.Asp370Gly
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1361A>G
  hgvsp: ENSP00000300714.3:p.Asp454Gly
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.439T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1684A>G
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12397
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp454Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

17-79202945-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202945
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202944
    reference: chr 17
allele count: 1
allele frequency: 8.547154652216277e-6
allele num: 116998
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1360delG
  hgvsp: ENSP00000300714.3:p.Asp454ThrfsTer70
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2775delG
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.441delC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1683delG
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1108delG
  hgvsp: ENSP00000363901.2:p.Asp370ThrfsTer70
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5891
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp454ThrfsTer70
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: TC
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum

17-79202947-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202947
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202947
    reference: chr 17
allele count: 12
allele frequency: 1.026904908605463e-4
allele num: 116856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1682G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1107G>A
  hgvsp: ENST00000374769.2:c.1107G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2774G>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1359G>A
  hgvsp: ENST00000300714.3:c.1359G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.441C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5865
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr453Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

17-79202948-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202948
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202948
    reference: chr 17
allele count: 4
allele frequency: 3.423543710094319e-5
allele num: 116838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1106C>T
  hgvsp: ENSP00000363901.2:p.Thr369Met
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1358C>T
  hgvsp: ENSP00000300714.3:p.Thr453Met
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2773C>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.442G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1681C>T
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12454
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29660
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5862
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31481
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5490
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr453Met
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

17-79202948-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202948
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202948
    reference: chr 17
allele count: 364
allele frequency: 3.11542477618583e-3
allele num: 116838
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1681C>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2773C>A
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1358C>A
  hgvsp: ENSP00000300714.3:p.Thr453Lys
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1106C>A
  hgvsp: ENSP00000363901.2:p.Thr369Lys
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.442G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 3.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 12454
  bin: 2.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 1.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 3.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 29660
  bin: 2.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5862
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31481
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Thr453Lys
num of homozygotes: 10
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

17-79202950-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202950
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202951
    reference: chr 17
allele count: 1
allele frequency: 8.564136820649846e-6
allele num: 116766
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1678dupG
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1355dupG
  hgvsp: ENSP00000300714.3:p.Thr453HisfsTer43
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.449dupC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2770dupG
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1103dupG
  hgvsp: ENSP00000363901.2:p.Thr369HisfsTer43
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5178
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr453HisfsTer43
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/17-79202954-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202954
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202954
    reference: chr 17
allele count: 2
allele frequency: 1.712211492363537e-5
allele num: 116808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2767G>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1100G>T
  hgvsp: ENSP00000363901.2:p.Gly367Val
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1352G>T
  hgvsp: ENSP00000300714.3:p.Gly451Val
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1675G>T
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.448C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6074
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5211
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gly451Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

17-79202955-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202955
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202954
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 116740
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1673delA
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1350delA
  hgvsp: ENSP00000300714.3:p.Gly452AlafsTer72
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2765delA
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.450delT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1098delA
  hgvsp: ENSP00000363901.2:p.Gly368AlafsTer72
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13193
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5217
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly452AlafsTer72
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: CT
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

17-79202956-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202956
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202956
    reference: chr 17
allele count: 60405
allele frequency: 5.180442874050187e-1
allele num: 116602
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.450T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2765A>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1350A>G
  hgvsp: ENST00000300714.3:c.1350A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1673A>G
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1098A>G
  hgvsp: ENST00000374769.2:c.1098A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.75e1
  variant carriers: 490
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 7.5e0
  variant carriers: 564
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 5.75e1
  variant carriers: 1155
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 1.25e1
  variant carriers: 1430
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 350
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.75e1
  variant carriers: 334
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 1.75e1
  variant carriers: 2861
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.25e1
  variant carriers: 405
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 4.75e1
  variant carriers: 3170
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 5.25e1
  variant carriers: 2034
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 345
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 9.75e1
  variant carriers: 2770
genotype depth: GenotypeDepth
  all individuals: 12519
  bin: 2.25e1
  variant carriers: 4722
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 4.25e1
  variant carriers: 4265
genotype depth: GenotypeDepth
  all individuals: 10036
  bin: 2.75e1
  variant carriers: 6136
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 352
genotype depth: GenotypeDepth
  all individuals: 7601
  bin: 3.25e1
  variant carriers: 6510
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 3.75e1
  variant carriers: 5862
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 706
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 3.25e1
  variant carriers: 254
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.75e1
  variant carriers: 175
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.75e1
  variant carriers: 318
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.5e0
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 7.25e1
  variant carriers: 522
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 8.75e1
  variant carriers: 611
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 2.25e1
  variant carriers: 215
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 4.75e1
  variant carriers: 469
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 8.25e1
  variant carriers: 992
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 7.75e1
  variant carriers: 1001
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 5.75e1
  variant carriers: 407
genotype quality: GenotypeQuality
  all individuals: 11240
  bin: 6.25e1
  variant carriers: 775
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 6.75e1
  variant carriers: 890
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.5e0
  variant carriers: 88
hgvs: p.Pro450Pro
num of homozygotes: 16760
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

17-79202956-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79202956
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79202956
    reference: chr 17
allele count: 3
allele frequency: 2.572854668015986e-5
allele num: 116602
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000300714
  ensembl transcript: ENST00000300714
  gene symbol: ENTHD2
  hgvsc: ENST00000300714.3:c.1350A>C
  hgvsp: ENST00000300714.3:c.1350A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000573295
  gene symbol: ENTHD2
  hgvsc: ENST00000573295.1:n.1673A>C
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167302
  ensembl transcript: ENST00000576090
  gene symbol: ENTHD2
  hgvsc: ENST00000576090.1:n.2765A>C
  variant of: http://identifiers.org/hgnc/26458
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260005
  ensembl transcript: ENST00000575922
  gene symbol: AC027601.1
  hgvsc: ENST00000575922.1:n.450T>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167302
  ensembl protein: ENSP00000363901
  ensembl transcript: ENST00000374769
  gene symbol: ENTHD2
  hgvsc: ENST00000374769.2:c.1098A>C
  hgvsp: ENST00000374769.2:c.1098A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10036
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro450Pro
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 98
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5210
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

FS
type: SiteQuality
SIO_000300: 2.392e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 8.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.728158e6

VQSLOD
type: SiteQuality
SIO_000300: -7.271e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5438
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6128
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64496
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17343346632246e-4
allele num: 8522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6068
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.889e0

VQSLOD
type: SiteQuality
SIO_000300: 4.1e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.57e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

DP
type: SiteQuality
SIO_000300: 1.735697e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 1.299e1

GenotypeQuality
all individuals: 39887
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6128
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1911
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 2
allele frequency: 2.331002331002331e-3
allele num: 858
num of homozygotes: 0

Latino
type: Population
allele count: 31
allele frequency: 2.722641840857193e-3
allele num: 11386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.201935003721161e-5
allele num: 64496
num of homozygotes: 0

African
type: Population
allele count: 356
allele frequency: 3.583652103885646e-2
allele num: 9934
num of homozygotes: 11

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6068
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.299e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 1.735697e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.57e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

FS
type: SiteQuality
SIO_000300: 1.889e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e0

GenotypeQuality
all individuals: 447
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6204
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172332942555686e-4
allele num: 8530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6076
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64558
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

QD
type: SiteQuality
SIO_000300: 9.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.899e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.732765e6

GenotypeQuality
all individuals: 6204
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.087909411907951e-5
allele num: 16426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6076
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 1.732765e6

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

QD
type: SiteQuality
SIO_000300: 9.73e0

GenotypeQuality
all individuals: 239
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5163
bin: 9.75e1
variant carriers: 11

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64580
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.690431519699812e-4
allele num: 8528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6098
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.140350877192983e-4
allele num: 11400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.733467e6

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

FS
type: SiteQuality
SIO_000300: 2.686e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-2

QD
type: SiteQuality
SIO_000300: 1.193e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.266e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.93e-1

GenotypeQuality
all individuals: 447
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40087
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.635055591890124e-4
allele num: 6116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e0

DP
type: SiteQuality
SIO_000300: 1.735026e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.58e0

FS
type: SiteQuality
SIO_000300: 7.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.231e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 448
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40323
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.619695497246518e-4
allele num: 6174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.932e0

FS
type: SiteQuality
SIO_000300: 2.626e0

MQ
type: SiteQuality
SIO_000300: 5.823e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.595e0

DP
type: SiteQuality
SIO_000300: 1.739286e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

QD
type: SiteQuality
SIO_000300: 8.49e0

GenotypeQuality
all individuals: 1184
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2057
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.0e-4
allele num: 10000
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64836
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168770453482936e-4
allele num: 8556
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.176e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.740506e6

FS
type: SiteQuality
SIO_000300: 2.3252e1

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.457e0

GenotypeQuality
all individuals: 1972
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2060
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.289e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.183e1

FS
type: SiteQuality
SIO_000300: 3.522e0

VQSLOD
type: SiteQuality
SIO_000300: -7.033e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

DP
type: SiteQuality
SIO_000300: 1.741463e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
all individuals: 200
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40429
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168497312456181e-4
allele num: 8558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64912
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 4.931e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.486e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 5.78e-1

DP
type: SiteQuality
SIO_000300: 1.741942e6

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

GenotypeQuality
all individuals: 215
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40340
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168770453482936e-4
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65006
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.932e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

FS
type: SiteQuality
SIO_000300: 1.1512e1

DP
type: SiteQuality
SIO_000300: 1.743303e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.224e0

VQSLOD
type: SiteQuality
SIO_000300: -7.788e-1

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

GenotypeQuality
all individuals: 253
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5156
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1968
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.616094783812895e-5
allele num: 64990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

FS
type: SiteQuality
SIO_000300: 2.5786e1

MQRankSum
type: SiteQuality
SIO_000300: -3.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.754e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 1.739942e6

QD
type: SiteQuality
SIO_000300: 2.255e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

GenotypeQuality
all individuals: 254
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6218
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65000
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.475e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.72e-1

FS
type: SiteQuality
SIO_000300: 7.128e1

QD
type: SiteQuality
SIO_000300: 2.803e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

DP
type: SiteQuality
SIO_000300: 1.739887e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.61e-1

GenotypeQuality
all individuals: 454
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6200
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1962
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.672897196261682e-4
allele num: 8560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.157e0

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.738334e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.55e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

GenotypeQuality
all individuals: 39576
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1590
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64974
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

DP
type: SiteQuality
SIO_000300: 1.737844e6

MQ
type: SiteQuality
SIO_000300: 5.906e1

FS
type: SiteQuality
SIO_000300: 2.78e0

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 388
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538130248869474e-5
allele num: 65014
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.341e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e-1

DP
type: SiteQuality
SIO_000300: 1.73825e6

VQSLOD
type: SiteQuality
SIO_000300: 9.21e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.288e1

GenotypeQuality
all individuals: 187
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2043
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
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variant carriers: 0

GenotypeQuality
all individuals: 5154
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.001602564102564e-4
allele num: 9984
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65012
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.738761e6

QD
type: SiteQuality
SIO_000300: 1.14e1

FS
type: SiteQuality
SIO_000300: 1.367e0

VQSLOD
type: SiteQuality
SIO_000300: 7.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

GenotypeQuality
all individuals: 2043
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5154
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 448
bin: 9.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.745505323791238e-4
allele num: 11458
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.738797e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.93e-1

FS
type: SiteQuality
SIO_000300: 4.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.236e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 1646
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5384
bin: 9.75e1
variant carriers: 418

GenotypeQuality
all individuals: 1168
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 188
bin: 7.5e0
variant carriers: 0

Other
type: Population
allele count: 3
allele frequency: 3.432494279176201e-3
allele num: 874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.22622708820273e-5
allele num: 65032
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.617801047120419e-4
allele num: 11460
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.00060036021613e-4
allele num: 9994
num of homozygotes: 0

South Asian
type: Population
allele count: 408
allele frequency: 2.475127396263043e-2
allele num: 16484
num of homozygotes: 7

East Asian
type: Population
allele count: 6
allele frequency: 7.006071929005138e-4
allele num: 8564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.74486e6

MQRankSum
type: SiteQuality
SIO_000300: 3.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.43e-2

QD
type: SiteQuality
SIO_000300: 1.284e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeQuality
all individuals: 277
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
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variant carriers: 0

GenotypeQuality
all individuals: 5183
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.080145382862071e-5
allele num: 64932
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.733982e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.897e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

QD
type: SiteQuality
SIO_000300: 1.9e-1

FS
type: SiteQuality
SIO_000300: 3.168e0

GenotypeQuality
all individuals: 261
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1964
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5186
bin: 9.75e1
variant carriers: 5

South Asian
type: Population
allele count: 5
allele frequency: 3.033612425676495e-4
allele num: 16482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64952
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.294e1

DP
type: SiteQuality
SIO_000300: 1.733102e6

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

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: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5186
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1958
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539408866995074e-5
allele num: 64960
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -5.064e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

FS
type: SiteQuality
SIO_000300: 8.75e0

QD
type: SiteQuality
SIO_000300: 9.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.53e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.42e-1

DP
type: SiteQuality
SIO_000300: 1.732985e6

GenotypeQuality
all individuals: 452
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2046
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.733624454148471e-5
allele num: 11450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 4.016870857601928e-4
allele num: 9958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.85e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e0

QD
type: SiteQuality
SIO_000300: 1.388e1

MQ
type: SiteQuality
SIO_000300: 5.944e1

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.732566e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-1

GenotypeQuality
all individuals: 121
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2046
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539645881447267e-5
allele num: 64950
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

DP
type: SiteQuality
SIO_000300: 1.732751e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.349e1

VQSLOD
type: SiteQuality
SIO_000300: 4.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.107e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

GenotypeQuality
all individuals: 453
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5200
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 6182
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.023106288929073e-4
allele num: 9954
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.1441647597254e-3
allele num: 874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.238728750923873e-5
allele num: 64944
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.303e1

FS
type: SiteQuality
SIO_000300: 1.724e0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.11e-1

DP
type: SiteQuality
SIO_000300: 1.733907e6

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

GenotypeQuality
all individuals: 157
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 6
allele frequency: 6.027727546714888e-4
allele num: 9954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

DP
type: SiteQuality
SIO_000300: 1.733907e6

FS
type: SiteQuality
SIO_000300: 1.724e0

QD
type: SiteQuality
SIO_000300: 1.303e1

GenotypeQuality
all individuals: 158
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5188
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 39093
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9956
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.146788990825688e-3
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.622211265869592e-5
allele num: 64904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.423e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-2

DP
type: SiteQuality
SIO_000300: 1.733428e6

QD
type: SiteQuality
SIO_000300: 1.173e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 2049
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39358
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1188
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.014469453376206e-4
allele num: 9952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.618795418154945e-5
allele num: 64952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.25e-1

FS
type: SiteQuality
SIO_000300: 1.115e0

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

DP
type: SiteQuality
SIO_000300: 1.734668e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.332e1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.19e-1

GenotypeQuality
all individuals: 135
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2047
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.078722945722114e-5
allele num: 64962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.19e-1

DP
type: SiteQuality
SIO_000300: 1.733997e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-1

FS
type: SiteQuality
SIO_000300: 2.566e0

MQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.01e1

GenotypeQuality
all individuals: 39253
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5186
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 296
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539124545958259e-5
allele num: 64972
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.127e0

MQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

FS
type: SiteQuality
SIO_000300: 6.686e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

DP
type: SiteQuality
SIO_000300: 1.73391e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.246e0

QD
type: SiteQuality
SIO_000300: 1.139e1

GenotypeQuality
all individuals: 1714
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 455
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39392
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539408866995074e-5
allele num: 64960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.932e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

VQSLOD
type: SiteQuality
SIO_000300: -1.074e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.734174e6

GenotypeQuality
all individuals: 1726
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39226
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64932
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 3.022e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

DP
type: SiteQuality
SIO_000300: 1.733196e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

QD
type: SiteQuality
SIO_000300: 1.559e1

VQSLOD
type: SiteQuality
SIO_000300: 6.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.896e0

MQRankSum
type: SiteQuality
SIO_000300: 9.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

GenotypeQuality
all individuals: 2042
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39343
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5189
bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.619079879288046e-5
allele num: 64948
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.254e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.96e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 8.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

DP
type: SiteQuality
SIO_000300: 1.733555e6

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.03e-1

GenotypeQuality
all individuals: 459
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1968
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39269
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9972
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

FS
type: SiteQuality
SIO_000300: 7.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.12e-1

DP
type: SiteQuality
SIO_000300: 1.732906e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.901e0

QD
type: SiteQuality
SIO_000300: 1.272e1

GenotypeQuality
all individuals: 38726
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6119
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5186
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 368
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1965
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.744316194473592e-5
allele num: 11436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 1.731512e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.96e0

GenotypeQuality
all individuals: 6112
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2041
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.137747097583935e-4
allele num: 6374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.821936110773715e-4
allele num: 16466
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.234758450378145e-4
allele num: 64790
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

DP
type: SiteQuality
SIO_000300: 1.733084e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.58e0

QD
type: SiteQuality
SIO_000300: 1.343e1

GenotypeQuality
all individuals: 105
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5193
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 314
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1962
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.006846556584777e-4
allele num: 9932
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542638528939899e-5
allele num: 64824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.958e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.732911e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

QD
type: SiteQuality
SIO_000300: 1.269e1

GenotypeQuality
all individuals: 86
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2023
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 533
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 454
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 6061
bin: 6.75e1
variant carriers: 1

African
type: Population
allele count: 536
allele frequency: 5.383688228204098e-2
allele num: 9956
num of homozygotes: 16

Latino
type: Population
allele count: 15
allele frequency: 1.313025210084034e-3
allele num: 11424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.152073732718894e-3
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.713192644699494e-5
allele num: 64824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.267e0

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 1.748278e6

QD
type: SiteQuality
SIO_000300: 1.394e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.11e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.9e0

FS
type: SiteQuality
SIO_000300: 5.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.85e-1

GenotypeQuality
all individuals: 5200
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.410216233155751e-3
allele num: 6382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.005430087621869e-4
allele num: 64824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.73e-1

DP
type: SiteQuality
SIO_000300: 1.733656e6

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 5.327e1

FS
type: SiteQuality
SIO_000300: 4.264e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 7.32e0

MQRankSum
type: SiteQuality
SIO_000300: -4.448e0

GenotypeQuality
all individuals: 1971
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2047
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39346
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.750437521876094e-5
allele num: 11428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64896
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.895e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

VQSLOD
type: SiteQuality
SIO_000300: 5.52e-1

DP
type: SiteQuality
SIO_000300: 1.737435e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 1.325e0

QD
type: SiteQuality
SIO_000300: 1.203e1

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5189
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9972
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

DP
type: SiteQuality
SIO_000300: 1.737435e6

FS
type: SiteQuality
SIO_000300: 1.325e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.895e0

QD
type: SiteQuality
SIO_000300: 1.203e1

VQSLOD
type: SiteQuality
SIO_000300: 5.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 462
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 460
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1967
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215066828675577e-4
allele num: 16460
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64900
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.245e0

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

MQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 2.753e0

DP
type: SiteQuality
SIO_000300: 1.737792e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

QD
type: SiteQuality
SIO_000300: 1.002e1

GenotypeQuality
all individuals: 1169
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5191
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 456
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6225
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.004823151125402e-4
allele num: 9952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 2.753e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

QD
type: SiteQuality
SIO_000300: 1.002e1

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.245e0

DP
type: SiteQuality
SIO_000300: 1.737792e6

GenotypeQuality
all individuals: 1970
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39006
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6187
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5182
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 136
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9948
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17096018735363e-4
allele num: 8540
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

QD
type: SiteQuality
SIO_000300: 1.158e1

FS
type: SiteQuality
SIO_000300: 9.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

DP
type: SiteQuality
SIO_000300: 1.73848e6

GenotypeQuality
all individuals: 6190
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39135
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 10
allele frequency: 8.75196919306844e-4
allele num: 11426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64892
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

FS
type: SiteQuality
SIO_000300: 1.746e0

DP
type: SiteQuality
SIO_000300: 1.738882e6

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.863e0

QD
type: SiteQuality
SIO_000300: 1.2e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5182
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 198
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2037
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6186
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.822821728034998e-4
allele num: 16458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64898
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.739176e6

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.287e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.053e1

GenotypeQuality
all individuals: 291
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5193
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39553
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540309910353963e-5
allele num: 64922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9962
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.875393769688485e-4
allele num: 11428
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-1

DP
type: SiteQuality
SIO_000300: 1.740495e6

FS
type: SiteQuality
SIO_000300: 1.746e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.317e1

GenotypeQuality
all individuals: 393
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39701
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.077549532028686e-4
allele num: 16454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.755034144633164e-5
allele num: 11422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64960
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

QD
type: SiteQuality
SIO_000300: 1.282e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.418e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

DP
type: SiteQuality
SIO_000300: 1.740951e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

GenotypeQuality
all individuals: 224
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539408866995074e-5
allele num: 64960
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.282e1

DP
type: SiteQuality
SIO_000300: 1.740951e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.418e0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2029
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1724
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.001786209232854e-4
allele num: 64942
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.886435331230284e-4
allele num: 11412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.873e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.95e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.294e1

DP
type: SiteQuality
SIO_000300: 1.741378e6

GenotypeQuality
all individuals: 442
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5203
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6253
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539835545563734e-5
allele num: 64942
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.95e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.873e0

DP
type: SiteQuality
SIO_000300: 1.741378e6

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

QD
type: SiteQuality
SIO_000300: 1.294e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

GenotypeQuality
all individuals: 1176
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39593
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5195
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 460
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64960
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.008423586040915e-4
allele num: 9972
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.762705923589205e-5
allele num: 11412
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.799e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.740507e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.62e-1

QD
type: SiteQuality
SIO_000300: 1.256e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 2004
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38632
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.173708920187793e-4
allele num: 8520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64816
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.730321e6

FS
type: SiteQuality
SIO_000300: 3.004e0

MQRankSum
type: SiteQuality
SIO_000300: -1.076e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

VQSLOD
type: SiteQuality
SIO_000300: 5.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
all individuals: 457
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6110
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.236e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

FS
type: SiteQuality
SIO_000300: 3.875e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.726486e6

QD
type: SiteQuality
SIO_000300: 1.384e1

GenotypeQuality
all individuals: 1163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5187
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1925
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64734
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.23e-1

QD
type: SiteQuality
SIO_000300: 1.243e1

DP
type: SiteQuality
SIO_000300: 1.7234e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.328e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

GenotypeQuality
all individuals: 2207
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1984
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.791981712678038e-5
allele num: 11374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64590
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.175364362952515e-4
allele num: 8508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.61e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

VQSLOD
type: SiteQuality
SIO_000300: 4.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.72253e6

FS
type: SiteQuality
SIO_000300: 1.132e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.27e-1

GenotypeQuality
all individuals: 37228
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5188
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 311
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1913
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.825039542523421e-4
allele num: 16438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.082e1

VQSLOD
type: SiteQuality
SIO_000300: -1.045e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-1

FS
type: SiteQuality
SIO_000300: 2.486e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQ
type: SiteQuality
SIO_000300: 5.861e1

DP
type: SiteQuality
SIO_000300: 1.721693e6

GenotypeQuality
all individuals: 2277
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5189
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1985
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.216693028348948e-4
allele num: 16438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.222e0

MQRankSum
type: SiteQuality
SIO_000300: -5.69e-1

FS
type: SiteQuality
SIO_000300: 6.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

DP
type: SiteQuality
SIO_000300: 1.721565e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

QD
type: SiteQuality
SIO_000300: 2.38e1

GenotypeQuality
all individuals: 458
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1910
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.175088131609871e-4
allele num: 8510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.811e1

DP
type: SiteQuality
SIO_000300: 1.721425e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-2

QD
type: SiteQuality
SIO_000300: 1.578e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

GenotypeQuality
all individuals: 714
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1911
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.651595497255559e-5
allele num: 64494
num of homozygotes: 0

South Asian
type: Population
allele count: 35
allele frequency: 2.130768294167783e-3
allele num: 16426
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

FS
type: SiteQuality
SIO_000300: 5.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 1.133e1

DP
type: SiteQuality
SIO_000300: 1.712855e6

GenotypeQuality
all individuals: 459
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5897
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.655782481842449e-5
allele num: 64436
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

QD
type: SiteQuality
SIO_000300: 9.1e0

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

MQ
type: SiteQuality
SIO_000300: 5.878e1

DP
type: SiteQuality
SIO_000300: 1.709232e6

VQSLOD
type: SiteQuality
SIO_000300: -1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 8.670999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.55e-1

GenotypeQuality
all individuals: 5209
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 681
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2029
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5860
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1949
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17813383600377e-4
allele num: 8488
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.128e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.417e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.701441e6

MQRankSum
type: SiteQuality
SIO_000300: -1.972e0

QD
type: SiteQuality
SIO_000300: 5.63e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.72e-1

GenotypeQuality
all individuals: 2033
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1961
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 271
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555355087566491e-5
allele num: 64294
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.651113467656416e-4
allele num: 11316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

African
type: Population
allele count: 75
allele frequency: 7.71128932757557e-3
allele num: 9726
num of homozygotes: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.090875867949811e-5
allele num: 16418
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.70076e6

FS
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

QD
type: SiteQuality
SIO_000300: 1.438e1

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

GenotypeQuality
all individuals: 1289
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2778
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5891
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5211
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.83060776177691e-4
allele num: 16388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.69552e6

FS
type: SiteQuality
SIO_000300: 8.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.339e1

GenotypeQuality
all individuals: 5211
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1218
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1326
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2778
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.1020258725897e-5
allele num: 16388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64190
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

QD
type: SiteQuality
SIO_000300: 1.339e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.69552e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

GenotypeQuality
all individuals: 5225
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1330
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2080
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64096
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6096
num of homozygotes: 0

East Asian
type: Population
allele count: 12
allele frequency: 1.414093801555503e-3
allele num: 8486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

DP
type: SiteQuality
SIO_000300: 1.697511e6

QD
type: SiteQuality
SIO_000300: 1.321e1

FS
type: SiteQuality
SIO_000300: 1.143e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.147e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e-1

GenotypeQuality
all individuals: 383
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1998
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
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: 64102
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.442598925256473e-4
allele num: 16376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.699312e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.66e-2

FS
type: SiteQuality
SIO_000300: 5.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.356e1

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

GenotypeQuality
all individuals: 466
bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 2755
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2076
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5490
bin: 9.75e1
variant carriers: 341

Latino
type: Population
allele count: 30
allele frequency: 2.656277669559058e-3
allele num: 11294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

African
type: Population
allele count: 328
allele frequency: 3.403195683751815e-2
allele num: 9638
num of homozygotes: 10

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: 4
allele frequency: 6.24005491248323e-5
allele num: 64102
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.380952380952381e-3
allele num: 840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.66e-2

QD
type: SiteQuality
SIO_000300: 1.356e1

FS
type: SiteQuality
SIO_000300: 5.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

DP
type: SiteQuality
SIO_000300: 1.699312e6

GenotypeQuality
all individuals: 1386
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2031
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1270
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5933
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
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: 1
allele frequency: 1.560695445890689e-5
allele num: 64074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: -1.456e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.54e-1

DP
type: SiteQuality
SIO_000300: 1.696946e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

FS
type: SiteQuality
SIO_000300: 1.2478e1

QD
type: SiteQuality
SIO_000300: 3.89e0

GenotypeQuality
all individuals: 2094
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31658
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.119346185039615e-5
allele num: 64116
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: -1.339e-1

DP
type: SiteQuality
SIO_000300: 1.702427e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.225e0

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.84e-1

GenotypeQuality
all individuals: 496
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2286
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6094
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.5967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 7.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.004e0

VQSLOD
type: SiteQuality
SIO_000300: -9.397e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.087e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.704853e6

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

GenotypeQuality
all individuals: 244
bin: 1.75e1
variant carriers: 169

GenotypeQuality
all individuals: 486
bin: 4.25e1
variant carriers: 309

GenotypeQuality
all individuals: 1045
bin: 9.25e1
variant carriers: 1016

GenotypeQuality
all individuals: 35642
bin: 9.75e1
variant carriers: 35572

GenotypeQuality
all individuals: 853
bin: 5.25e1
variant carriers: 580

South Asian
type: Population
allele count: 9871
allele frequency: 6.025515810035404e-1
allele num: 16382
num of homozygotes: 2995

East Asian
type: Population
allele count: 5883
allele frequency: 6.976992409867173e-1
allele num: 8432
num of homozygotes: 2036

European (Finnish)
type: Population
allele count: 3216
allele frequency: 5.298187808896211e-1
allele num: 6070
num of homozygotes: 847

African
type: Population
allele count: 1286
allele frequency: 1.347161114602975e-1
allele num: 9546
num of homozygotes: 110

Other
type: Population
allele count: 419
allele frequency: 4.906323185011709e-1
allele num: 854
num of homozygotes: 106

European (Non-Finnish)
type: Population
allele count: 31613
allele frequency: 4.934596653346653e-1
allele num: 64064
num of homozygotes: 7690

Latino
type: Population
allele count: 8117
allele frequency: 7.212546650079972e-1
allele num: 11254
num of homozygotes: 2976

FS
type: SiteQuality
SIO_000300: 5.620000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

DP
type: SiteQuality
SIO_000300: 2.196108e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.258e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.93e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

QD
type: SiteQuality
SIO_000300: 1.944e1

MQ
type: SiteQuality
SIO_000300: 5.946e1