17-80398965-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80398965
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80398965
    reference: chr 17
allele count: 7
allele frequency: 5.820528171356349e-5
allele num: 120264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1061+14A>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+14A>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1075A>G
  hgvsp: ENSP00000337854.6:p.Ser359Gly
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*185+14A>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1056+19A>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*173+14A>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*314+14A>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.574+19A>G
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10578
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser359Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS

17-80398967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80398967
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80398967
    reference: chr 17
allele count: 1
allele frequency: 8.316284949187499e-6
allele num: 120246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*185+16C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1077C>T
  hgvsp: ENST00000337014.6:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1061+16C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1056+21C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*173+16C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.574+21C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*314+16C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+16C>T
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10576
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser359Ser
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS

17-80398972-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80398972
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80398970
    reference: chr 17
allele count: 1
allele frequency: 8.317253310266817e-6
allele num: 120232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1061+22_1061+23delCT
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*185+22_*185+23delCT
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1083_1084delCT
  hgvsp: ENSP00000337854.6:p.Cys362SerfsTer155
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*173+22_*173+23delCT
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1056+27_1056+28delCT
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+22_368+23delCT
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.574+27_574+28delCT
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*314+22_*314+23delCT
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10571
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys362SerfsTer155
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: CCT
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

17-80398976-T-TCCCCTTCTTCCCCTCCCCTTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80398976
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80398997
    reference: chr 17
allele count: 1
allele frequency: 8.323761008173934e-6
allele num: 120138
alternate allele: TCCCCTTCTTCCCCTCCCCTTC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsp: ENSP00000337854.6:p.Leu364_Pro370dup
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu364_Pro370dup
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

17-80398978-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80398978
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80398978
    reference: chr 17
allele count: 2
allele frequency: 1.664779916095092e-5
allele num: 120136
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1056+32C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1088C>G
  hgvsp: ENSP00000337854.6:p.Pro363Arg
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+27C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1061+27C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*185+27C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.574+32C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*314+27C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*173+27C>G
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10536
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro363Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

17-80398983-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80398983
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80398983
    reference: chr 17
allele count: 63
allele frequency: 5.245279248676191e-4
allele num: 120108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.574+37C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*173+32C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*185+32C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1061+32C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*314+32C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+32C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1093C>G
  hgvsp: ENSP00000337854.6:p.Leu365Val
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1056+37C>G
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19710
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42788
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu365Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

17-80398984-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80398984
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80398984
    reference: chr 17
allele count: 1
allele frequency: 8.326533331112925e-6
allele num: 120098
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*173+33T>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*185+33T>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+33T>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1061+33T>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1056+38T>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*314+33T>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1094T>G
  hgvsp: ENSP00000337854.6:p.Leu365Arg
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.574+38T>G
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42849
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu365Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

17-80398985-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80398985
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80398984
    reference: chr 17
allele count: 1
allele frequency: 8.327920185212944e-6
allele num: 120078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*314+38delC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.574+43delC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1099delC
  hgvsp: ENSP00000337854.6:p.Leu367SerfsTer206
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*173+38delC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+38delC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*185+38delC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1061+38delC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1057-40delC
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu367SerfsTer206
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: TC
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

17-80398989-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80398989
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80398989
    reference: chr 17
allele count: 1
allele frequency: 8.33152816889674e-6
allele num: 120026
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+38C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*314+38C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.574+43C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1057-40C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1099C>G
  hgvsp: ENSP00000337854.6:p.Leu367Val
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*173+38C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1061+38C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*185+38C>G
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu367Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-80398989-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80398989
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80398989
    reference: chr 17
allele count: 2
allele frequency: 1.666305633779348e-5
allele num: 120026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1057-40C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.574+43C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1099C>T
  hgvsp: ENSP00000337854.6:p.Leu367Phe
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*173+38C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*185+38C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*314+38C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1061+38C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+38C>T
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu367Phe
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

17-80398994-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80398994
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80398994
    reference: chr 17
allele count: 1
allele frequency: 8.338475393159114e-6
allele num: 119926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+43C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1057-35C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*173+43C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.575-47C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1104C>T
  hgvsp: ENST00000337014.6:c.1104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1061+43C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*185+43C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*314+43C>T
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro368Pro
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

17-80398996-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80398996
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80398996
    reference: chr 17
allele count: 1
allele frequency: 8.34432002136146e-6
allele num: 119842
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1106T>C
  hgvsp: ENSP00000337854.6:p.Phe369Ser
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1061+45T>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*314+45T>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+45T>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.575-45T>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1057-33T>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*185+45T>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*173+45T>C
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe369Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

17-80398998-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80398998
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80398998
    reference: chr 17
allele count: 1
allele frequency: 8.341953351796856e-6
allele num: 119876
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1108C>T
  hgvsp: ENSP00000337854.6:p.Pro370Ser
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*315-43C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1062-43C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*174-43C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1057-31C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*186-43C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+47C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.575-43C>T
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro370Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

17-80399001-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399001
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399001
    reference: chr 17
allele count: 3
allele frequency: 2.502961838175174e-5
allele num: 119858
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1057-28C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1111C>G
  hgvsp: ENSP00000337854.6:p.Arg371Gly
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+50C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*315-40C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*174-40C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.575-40C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*186-40C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1062-40C>G
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19669
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10483
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg371Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-80399001-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399001
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399001
    reference: chr 17
allele count: 5
allele frequency: 4.17160306362529e-5
allele num: 119858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.575-40C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1062-40C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*186-40C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*315-40C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*174-40C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1111C>T
  hgvsp: ENSP00000337854.6:p.Arg371Cys
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1057-28C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+50C>T
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42427
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg371Cys
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-80399002-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399002
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399002
    reference: chr 17
allele count: 152
allele frequency: 1.269459477517205e-3
allele num: 119736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1057-27G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*315-39G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*186-39G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1062-39G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1112G>A
  hgvsp: ENSP00000337854.6:p.Arg371His
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*174-39G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+51G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.575-39G>A
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19666
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27578
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 9.75e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 9.75e1
  variant carriers: 152
genotype quality: GenotypeQuality
  all individuals: 10466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg371His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

17-80399002-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399002
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399003
    reference: chr 17
allele count: 1
allele frequency: 8.351707088928977e-6
allele num: 119736
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1057-24dupC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*174-36dupC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1115dupC
  hgvsp: ENSP00000337854.6:p.Trp373ValfsTer145
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+54dupC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*186-36dupC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.575-36dupC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*315-36dupC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1062-36dupC
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27578
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Trp373ValfsTer145
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-80399006-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399006
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399006
    reference: chr 17
allele count: 1
allele frequency: 8.352265134304423e-6
allele num: 119728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1062-35G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+55G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1116G>A
  hgvsp: ENST00000337014.6:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*186-35G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*315-35G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1057-23G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.575-35G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*174-35G>A
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro372Pro
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD

17-80399009-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399009
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399009
    reference: chr 17
allele count: 1
allele frequency: 8.351846593281774e-6
allele num: 119734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1062-32G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+58G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*174-32G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.575-32G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1119G>A
  hgvsp: ENSP00000337854.6:p.Trp373Ter
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*186-32G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1057-20G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*315-32G>A
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Trp373Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

17-80399036-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399036
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399036
    reference: chr 17
allele count: 110
allele frequency: 9.20779481684859e-4
allele num: 119464
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1146C>T
  hgvsp: ENST00000337014.6:c.1146C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+85C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1062-5C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.575-5C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*186-5C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1064C>T
  hgvsp: ENSP00000463129.1:p.Pro355Leu
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*315-5C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*174-5C>T
  variant of: http://identifiers.org/hgnc/26307
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27506
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19633
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 9.75e1
  variant carriers: 110
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42320
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro355Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

17-80399037-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399037
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399037
    reference: chr 17
allele count: 27
allele frequency: 2.260852090032154e-4
allele num: 119424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*186-4G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*315-4G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*174-4G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1147G>A
  hgvsp: ENSP00000337854.6:p.Ala383Thr
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.575-4G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1062-4G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1065G>A
  hgvsp: ENST00000577944.1:c.1065G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+86G>A
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19672
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10442
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala383Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD

17-80399043-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399043
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399042
    reference: chr 17
allele count: 1
allele frequency: 8.384056877441857e-6
allele num: 119274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*193delG
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+97delG
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1076delG
  hgvsp: ENSP00000463129.1:p.Gly359AlafsTer131
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*322delG
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1069delG
  hgvsp: ENSP00000332634.9:p.Ala357ProfsTer200
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*181delG
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1158delG
  hgvsp: ENSP00000337854.6:p.Pro387ArgfsTer186
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.582delG
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro387ArgfsTer186
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: AG
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

17-80399050-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399050
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399050
    reference: chr 17
allele count: 1
allele frequency: 8.372124175345769e-6
allele num: 119444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1071C>T
  hgvsp: ENST00000327949.9:c.1071C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+99C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1160C>T
  hgvsp: ENSP00000337854.6:p.Pro387Leu
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1078C>T
  hgvsp: ENSP00000463129.1:p.Arg360Trp
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*324C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.584C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*183C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*195C>T
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro387Leu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

17-80399051-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399051
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399051
    reference: chr 17
allele count: 1
allele frequency: 8.372404554588077e-6
allele num: 119440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1072G>A
  hgvsp: ENSP00000332634.9:p.Gly358Ser
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1079G>A
  hgvsp: ENSP00000463129.1:p.Arg360Gln
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*196G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*184G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*325G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1161G>A
  hgvsp: ENST00000337014.6:c.1161G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.585G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+100G>A
  variant of: http://identifiers.org/hgnc/26307
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly358Ser
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-80399056-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399056
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399056
    reference: chr 17
allele count: 200
allele frequency: 1.675013818864006e-3
allele num: 119402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*201C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+105C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1166C>T
  hgvsp: ENSP00000337854.6:p.Pro389Leu
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1084C>T
  hgvsp: ENSP00000463129.1:p.Leu362Phe
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*189C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1077C>T
  hgvsp: ENST00000327949.9:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.590C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*330C>T
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27640
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 19681
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 9.75e1
  variant carriers: 199
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro389Leu
num of homozygotes: 1
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-80399067-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399067
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399067
    reference: chr 17
allele count: 1
allele frequency: 8.382229673093043e-6
allele num: 119300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*200G>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1095G>T
  hgvsp: ENSP00000463129.1:p.Gln365His
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.601G>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*341G>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*212G>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1088G>T
  hgvsp: ENSP00000332634.9:p.Ser363Ile
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1177G>T
  hgvsp: ENSP00000337854.6:p.Ala393Ser
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+116G>T
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10498
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala393Ser
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-80399068-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399068
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399068
    reference: chr 17
allele count: 2
allele frequency: 1.676698915175802e-5
allele num: 119282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1096C>T
  hgvsp: ENSP00000463129.1:p.Gln366Ter
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.602C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+117C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*213C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1178C>T
  hgvsp: ENSP00000337854.6:p.Ala393Val
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*201C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1089C>T
  hgvsp: ENST00000327949.9:c.1089C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*342C>T
  variant of: http://identifiers.org/hgnc/26307
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19732
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln366Ter
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP

17-80399074-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399074
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399074
    reference: chr 17
allele count: 1
allele frequency: 8.390528771123156e-6
allele num: 119182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.608C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*207C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1102C>T
  hgvsp: ENSP00000463129.1:p.Pro368Ser
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1184C>T
  hgvsp: ENSP00000337854.6:p.Ser395Phe
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*219C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1095C>T
  hgvsp: ENST00000327949.9:c.1095C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*348C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+123C>T
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser395Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

17-80399075-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399075
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399075
    reference: chr 17
allele count: 1
allele frequency: 8.390528771123156e-6
allele num: 119182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1103C>T
  hgvsp: ENSP00000463129.1:p.Pro368Leu
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*349C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.609C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+124C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1096C>T
  hgvsp: ENSP00000332634.9:p.Leu366Phe
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*220C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1185C>T
  hgvsp: ENST00000337014.6:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*208C>T
  variant of: http://identifiers.org/hgnc/26307
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu366Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

17-80399081-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399081
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399081
    reference: chr 17
allele count: 1
allele frequency: 8.396728634523989e-6
allele num: 119094
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1109C>G
  hgvsp: ENSP00000463129.1:p.Pro370Arg
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+130C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.615C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*355C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*226C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*214C>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1191C>G
  hgvsp: ENST00000337014.6:c.1191C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1102C>G
  hgvsp: ENSP00000332634.9:p.Leu368Val
  variant of: http://identifiers.org/hgnc/26307
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu368Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-80399081-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399081
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399081
    reference: chr 17
allele count: 1
allele frequency: 8.396728634523989e-6
allele num: 119094
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1191C>T
  hgvsp: ENST00000337014.6:c.1191C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+130C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*214C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*355C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1102C>T
  hgvsp: ENSP00000332634.9:p.Leu368Phe
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1109C>T
  hgvsp: ENSP00000463129.1:p.Pro370Leu
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*226C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.615C>T
  variant of: http://identifiers.org/hgnc/26307
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10489
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu368Phe
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-80399089-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399089
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399089
    reference: chr 17
allele count: 1
allele frequency: 8.408166010829718e-6
allele num: 118932
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1199A>C
  hgvsp: ENSP00000337854.6:p.His400Pro
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1110A>C
  hgvsp: ENST00000327949.9:c.1110A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*363A>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*234A>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+138A>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.623A>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1117A>C
  hgvsp: ENSP00000463129.1:p.Thr373Pro
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*222A>C
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His400Pro
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

17-80399091-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399091
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399091
    reference: chr 17
allele count: 1
allele frequency: 8.41283462049703e-6
allele num: 118866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*224A>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+140A>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1201A>T
  hgvsp: ENSP00000337854.6:p.Lys401Ter
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1112A>T
  hgvsp: ENSP00000332634.9:p.Gln371Leu
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*365A>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*236A>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1119A>T
  hgvsp: ENST00000577944.1:c.1119A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.625A>T
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys401Ter
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-80399092-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399092
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399092
    reference: chr 17
allele count: 32
allele frequency: 2.692514808831449e-4
allele num: 118848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*366A>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.626A>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*237A>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1202A>C
  hgvsp: ENSP00000337854.6:p.Lys401Thr
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1120A>C
  hgvsp: ENSP00000463129.1:p.Ser374Arg
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*225A>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+141A>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1113A>C
  hgvsp: ENSP00000332634.9:p.Gln371His
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42448
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys401Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

17-80399094-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399094
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399094
    reference: chr 17
allele count: 2
allele frequency: 1.684664499065011e-5
allele num: 118718
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.628T>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+143T>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*368T>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1204T>C
  hgvsp: ENSP00000337854.6:p.Ser402Pro
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*227T>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*239T>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1122T>C
  hgvsp: ENST00000577944.1:c.1122T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1115T>C
  hgvsp: ENSP00000332634.9:p.Val372Ala
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser402Pro
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

17-80399098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399098
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399098
    reference: chr 17
allele count: 1
allele frequency: 8.431561019207096e-6
allele num: 118602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+147C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1126C>T
  hgvsp: ENSP00000463129.1:p.Pro376Ser
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*243C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*372C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1119C>T
  hgvsp: ENST00000327949.9:c.1119C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*231C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1208C>T
  hgvsp: ENSP00000337854.6:p.Ala403Val
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.632C>T
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala403Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

17-80399104-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399104
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399104
    reference: chr 17
allele count: 33
allele frequency: 2.787209243399382e-4
allele num: 118398
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1214T>A
  hgvsp: ENSP00000337854.6:p.Ile405Asn
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.638T>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1132T>A
  hgvsp: ENSP00000463129.1:p.Ser378Thr
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*237T>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+153T>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*378T>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*249T>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1125T>A
  hgvsp: ENSP00000332634.9:p.His375Gln
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10419
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile405Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

17-80399108-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399108
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399108
    reference: chr 17
allele count: 1
allele frequency: 8.445803280349994e-6
allele num: 118402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1136C>T
  hgvsp: ENSP00000463129.1:p.Ala379Val
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1218C>T
  hgvsp: ENST00000337014.6:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+157C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*241C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*382C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1129C>T
  hgvsp: ENSP00000332634.9:p.Arg377Cys
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*253C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.642C>T
  variant of: http://identifiers.org/hgnc/26307
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg377Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-80399109-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399109
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399109
    reference: chr 17
allele count: 1
allele frequency: 8.451799388089724e-6
allele num: 118318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1130G>A
  hgvsp: ENSP00000332634.9:p.Arg377His
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+158G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.643G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1137G>A
  hgvsp: ENST00000577944.1:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*383G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1219G>A
  hgvsp: ENSP00000337854.6:p.Ala407Thr
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*242G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*254G>A
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala407Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

17-80399112-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399112
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399112
    reference: chr 17
allele count: 2
allele frequency: 1.691303318337111e-5
allele num: 118252
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1222G>C
  hgvsp: ENSP00000337854.6:p.Ala408Pro
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1133G>C
  hgvsp: ENSP00000332634.9:p.Ser378Thr
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.646G>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+161G>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*245G>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*386G>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*257G>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1140G>C
  hgvsp: ENSP00000463129.1:p.Gln380His
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27431
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala408Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

17-80399113-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399113
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399113
    reference: chr 17
allele count: 1
allele frequency: 8.463100880162492e-6
allele num: 118160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*387C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1134C>T
  hgvsp: ENST00000327949.9:c.1134C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.647C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*246C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1223C>T
  hgvsp: ENSP00000337854.6:p.Ala408Val
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1141C>T
  hgvsp: ENSP00000463129.1:p.Leu381Phe
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+162C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*258C>T
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala408Val
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

17-80399116-TGTGGATGCGCTGCTGGAGGGCAACAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399116
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399090
    reference: chr 17
allele count: 2
allele frequency: 1.695346274476562e-5
allele num: 117970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: TGTGGATGCGCTGCTGGAGGGCAACAG
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-80399124-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399124
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399124
    reference: chr 17
allele count: 3
allele frequency: 2.552626652825758e-5
allele num: 117526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1152C>T
  hgvsp: ENST00000577944.1:c.1152C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+173C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*398C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1145C>T
  hgvsp: ENSP00000332634.9:p.Ala382Val
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*269C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1234C>T
  hgvsp: ENSP00000337854.6:p.Arg412Cys
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.658C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*257C>T
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg412Cys
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

17-80399131-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399131
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399131
    reference: chr 17
allele count: 2
allele frequency: 1.707533638412677e-5
allele num: 117128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*276G>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1159G>C
  hgvsp: ENSP00000463129.1:p.Gly387Arg
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.665G>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1152G>C
  hgvsp: ENST00000327949.9:c.1152G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*264G>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*405G>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1241G>C
  hgvsp: ENSP00000337854.6:p.Trp414Ser
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+180G>C
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Trp414Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

17-80399139-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399139
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399139
    reference: chr 17
allele count: 1
allele frequency: 8.600079120727911e-6
allele num: 116278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*413A>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1160A>G
  hgvsp: ENSP00000332634.9:p.Asn387Ser
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.673A>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1167A>G
  hgvsp: ENST00000577944.1:c.1167A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1249A>G
  hgvsp: ENSP00000337854.6:p.Thr417Ala
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+188A>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*284A>G
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*272A>G
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40430
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr417Ala
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

17-80399148-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399148
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399149
    reference: chr 17
allele count: 1
allele frequency: 8.721437292865864e-6
allele num: 114660
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*416+6_*416+7insT
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+197_368+198insT
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1163+6_1163+7insT
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*275+6_*275+7insT
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1170+6_1170+7insT
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1252+6_1252+7insT
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.676+6_676+7insT
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*287+6_*287+7insT
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1252+6_1252+7insT
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

17-80399148-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399148
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399148
    reference: chr 17
allele count: 2
allele frequency: 1.744287458573173e-5
allele num: 114660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*416+6C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1170+6C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*287+6C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1163+6C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.676+6C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1252+6C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*275+6C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+197C>T
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25198
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 9.75e1
  variant carriers: 2
hgvs: c.1252+6C>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

17-80399149-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399149
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399149
    reference: chr 17
allele count: 3
allele frequency: 2.626556234568982e-5
allele num: 114218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1163+7G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.676+7G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*416+7G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*275+7G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1170+7G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*287+7G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1252+7G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+198G>A
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37085
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1252+7G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

17-80399157-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399157
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399156
    reference: chr 17
allele count: 15
allele frequency: 1.3419696535929e-4
allele num: 111776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*287+16delA
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+207delA
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*416+16delA
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1252+16delA
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*275+16delA
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.676+16delA
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1163+16delA
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1170+16delA
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21363
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14446
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: TA
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

17-80399158-AGGGGCAGGTGTGGGTGAGGGGGGCAGGCATGGGGCGGGTGCAGGTGAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399158
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399110
    reference: chr 17
allele count: 1
allele frequency: 8.949667072384908e-6
allele num: 111736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21371
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: AGGGGCAGGTGTGGGTGAGGGGGGCAGGCATGGGGCGGGTGCAGGTGAG
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-80399159-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399159
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399159
    reference: chr 17
allele count: 1
allele frequency: 8.975854950184005e-6
allele num: 111410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1170+17G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*287+17G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1163+17G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1252+17G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*275+17G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.676+17G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+208G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*416+17G>A
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30547
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7977
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

17-80399164-AGGTGTGGGTGAGGGGGGCAGGCATGGGGCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399164
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399134
    reference: chr 17
allele count: 1
allele frequency: 9.144278424989484e-6
allele num: 109358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 11088
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: AGGTGTGGGTGAGGGGGGCAGGCATGGGGCG
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-80399166-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399166
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399166
    reference: chr 17
allele count: 2
allele frequency: 1.845733586814079e-5
allele num: 108358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1163+24G>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.676+24G>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+215G>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*287+24G>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*416+24G>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*275+24G>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1170+24G>C
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1252+24G>C
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14807
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
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: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

17-80399168-GTGGGTGAGGGGGGCAGGCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399168
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399149
    reference: chr 17
allele count: 2
allele frequency: 1.860153648691382e-5
allele num: 107518
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12967
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6899
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: GTGGGTGAGGGGGGCAGGCA
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-80399170-GGGTGAGGGGGGCAGGCATGGGGCGGGTGCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399170
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399140
    reference: chr 17
allele count: 1
allele frequency: 9.431470932206587e-6
allele num: 106028
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8605
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4035
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4778
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: GGGTGAGGGGGGCAGGCATGGGGCGGGTGCA
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

17-80399174-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399174
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399174
    reference: chr 17
allele count: 1
allele frequency: 9.640412609659693e-6
allele num: 103730
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.676+32G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*275+32G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*416+32G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*287+32G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+223G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1163+32G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1252+32G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1170+32G>A
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23856
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

17-80399175-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399175
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399176
    reference: chr 17
allele count: 2
allele frequency: 1.962515945442057e-5
allele num: 101910
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*275+39dupG
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.676+39dupG
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1163+39dupG
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1170+39dupG
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1252+39dupG
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+230dupG
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*287+39dupG
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*416+39dupG
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11390
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9832
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5756
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3478
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

17-80399176-GGGGGGCAGGCATGGGGCGGGTGCAGGTGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399176
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399147
    reference: chr 17
allele count: 1
allele frequency: 9.75781112780781e-6
allele num: 102482
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22611
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5781
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GGGGGGCAGGCATGGGGCGGGTGCAGGTGA
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-80399177-G-GGGGGCAGGCAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399177
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399188
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 101822
alternate allele: GGGGGCAGGCAT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11935
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5597
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

17-80399181-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399181
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399181
    reference: chr 17
allele count: 333
allele frequency: 3.51228773336146e-3
allele num: 94810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+230G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*287+39G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1252+39G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*275+39G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*416+39G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1170+39G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1163+39G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.676+39G>A
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21975
  bin: 1.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 2.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 14590
  bin: 1.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 2.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 7830
  bin: 7.5e0
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6624
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5716
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5215
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 23021
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 4
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD

17-80399188-TGGGGCGGGTGCAGGTGAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399188
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399170
    reference: chr 17
allele count: 2
allele frequency: 2.549134568813888e-5
allele num: 78458
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19936
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12963
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5656
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6658
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: TGGGGCGGGTGCAGGTGAG
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-80399189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399189
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399189
    reference: chr 17
allele count: 1
allele frequency: 1.23395853899309e-5
allele num: 81040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1170+47G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1252+47G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*275+47G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1163+47G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.676+47G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+238G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*416+47G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*287+47G>A
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12790
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20027
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

17-80399192-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399192
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399192
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 72096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+241G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*287+50G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*416+50G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1163+50G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*275+50G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.676+50G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1170+50G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1252+50G>A
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13818
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6505
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4329
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

17-80399193-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399193
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399193
    reference: chr 17
allele count: 29887
allele frequency: 4.104906054279749e-1
allele num: 72808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1163+51C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1170+51C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*287+51C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*275+51C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+242C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.676+51C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1252+51C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*416+51C>T
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 2.5e0
  variant carriers: 740
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 324
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10923
  bin: 1.75e1
  variant carriers: 6358
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 19927
  bin: 1.25e1
  variant carriers: 11935
genotype depth: GenotypeDepth
  all individuals: 15665
  bin: 7.5e0
  variant carriers: 8208
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 2.25e1
  variant carriers: 2547
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.25e1
  variant carriers: 655
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 2.75e1
  variant carriers: 1337
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 8.25e1
  variant carriers: 951
genotype quality: GenotypeQuality
  all individuals: 15664
  bin: 9.75e1
  variant carriers: 15512
genotype quality: GenotypeQuality
  all individuals: 4821
  bin: 2.5e0
  variant carriers: 182
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 1.75e1
  variant carriers: 1231
genotype quality: GenotypeQuality
  all individuals: 7004
  bin: 2.25e1
  variant carriers: 1772
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 4.75e1
  variant carriers: 1190
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 1.25e1
  variant carriers: 576
num of homozygotes: 6775
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

17-80399194-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399194
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399194
    reference: chr 17
allele count: 2
allele frequency: 2.962436307619386e-5
allele num: 67512
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1170+52G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.676+52G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1252+52G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*416+52G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.368+243G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*275+52G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*287+52G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1163+52G>A
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 19622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10990
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4298
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11097
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

17-80399194-GGGTGCAGGTGAGGGGGCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399194
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399176
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 67512
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10990
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15592
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4959
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4298
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6788
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: GGGTGCAGGTGAGGGGGCA
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

17-80399628-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399628
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399628
    reference: chr 17
allele count: 1
allele frequency: 8.365120792344242e-6
allele num: 119544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1171-48C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1164-48C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.369-69C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*288-48C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*417-48C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.677-48C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1253-48C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*276-48C>T
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10385
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

17-80399629-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399629
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399629
    reference: chr 17
allele count: 19
allele frequency: 1.588814744200826e-4
allele num: 119586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1164-47G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*288-47G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1171-47G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.677-47G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.369-68G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*276-47G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*417-47G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1253-47G>A
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10385
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3082
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

17-80399645-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399645
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399645
    reference: chr 17
allele count: 508
allele frequency: 4.244865217173321e-3
allele num: 119674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1164-31C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*276-31C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1171-31C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*288-31C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1253-31C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.677-31C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.369-52C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*417-31C>T
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10488
  bin: 9.75e1
  variant carriers: 397
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 6.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3000
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 4
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

17-80399646-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399646
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399646
    reference: chr 17
allele count: 2
allele frequency: 1.671262638923707e-5
allele num: 119670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*288-30G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.369-51G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*417-30G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1253-30G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1164-30G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1171-30G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*276-30G>A
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.677-30G>A
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10218
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

17-80399647-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80399647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80399647
    reference: chr 17
allele count: 1
allele frequency: 8.357011532675915e-6
allele num: 119660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463129
  ensembl transcript: ENST00000577944
  gene symbol: HEXDC
  hgvsc: ENST00000577944.1:c.1171-29C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000337854
  ensembl transcript: ENST00000337014
  gene symbol: HEXDC
  hgvsc: ENST00000337014.6:c.1253-29C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl transcript: ENST00000582131
  gene symbol: HEXDC
  hgvsc: ENST00000582131.1:n.677-29C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000332634
  ensembl transcript: ENST00000327949
  gene symbol: HEXDC
  hgvsc: ENST00000327949.9:c.1164-29C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000465465
  ensembl transcript: ENST00000583354
  gene symbol: HEXDC
  hgvsc: ENST00000583354.1:c.*417-29C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000462000
  ensembl transcript: ENST00000578130
  gene symbol: HEXDC
  hgvsc: ENST00000578130.1:c.369-50C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000463241
  ensembl transcript: ENST00000578616
  gene symbol: HEXDC
  hgvsc: ENST00000578616.1:c.*288-29C>T
  variant of: http://identifiers.org/hgnc/26307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169660
  ensembl protein: ENSP00000464912
  ensembl transcript: ENST00000582429
  gene symbol: HEXDC
  hgvsc: ENST00000582429.1:c.*276-29C>T
  variant of: http://identifiers.org/hgnc/26307
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5085
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1714
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 43184
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.038867128653209e-5
allele num: 66380
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

DP
type: SiteQuality
SIO_000300: 1.810069e6

QD
type: SiteQuality
SIO_000300: 1.202e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.228e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.14e-1

FS
type: SiteQuality
SIO_000300: 5.23e-1

GenotypeQuality
all individuals: 59
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1712
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 691
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 43104
bin: 6.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66366
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.105e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.247e0

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

DP
type: SiteQuality
SIO_000300: 1.80816e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43134
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1100
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 392
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66362
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: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

QD
type: SiteQuality
SIO_000300: 1.678e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 1.807721e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

FS
type: SiteQuality
SIO_000300: 3.314e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.876e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.995e1

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42823
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10532
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
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: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508341126429153e-5
allele num: 66298
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.25e-1

QD
type: SiteQuality
SIO_000300: 1.027e1

MQ
type: SiteQuality
SIO_000300: 6.088e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.855e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.84e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

DP
type: SiteQuality
SIO_000300: 1.805541e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

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

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1708
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016500256402522e-5
allele num: 66302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.154e1

MQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.805652e6

FS
type: SiteQuality
SIO_000300: 2.542e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

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

GenotypeQuality
all individuals: 123
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 9.75e1
variant carriers: 63

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

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10528
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

South Asian
type: Population
allele count: 63
allele frequency: 3.823279524214104e-3
allele num: 16478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.36e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

DP
type: SiteQuality
SIO_000300: 1.810205e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

GenotypeQuality
all individuals: 61
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 124
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10537
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 9.75e1
variant carriers: 1

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66268
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.238e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.799404e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e-1

QD
type: SiteQuality
SIO_000300: 1.119e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

GenotypeQuality
all individuals: 110
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10530
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42753
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 9.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.029230135858378e-4
allele num: 9716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.134e0

DP
type: SiteQuality
SIO_000300: 1.798734e6

QD
type: SiteQuality
SIO_000300: 1.086e1

FS
type: SiteQuality
SIO_000300: 4.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

MQ
type: SiteQuality
SIO_000300: 6.033e1

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1708
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10507
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42642
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66218
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.278e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 1.797664e6

MQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

QD
type: SiteQuality
SIO_000300: 1.264e1

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 615
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1037
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 155
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10507
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.214181641573579e-4
allele num: 16472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66218
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 3.278e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

DP
type: SiteQuality
SIO_000300: 1.797664e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.264e1

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42363
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1949
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 651
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10481
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511898642315019e-5
allele num: 66142
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 1.795083e6

VQSLOD
type: SiteQuality
SIO_000300: -6.138e-1

QD
type: SiteQuality
SIO_000300: 1.229e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

FS
type: SiteQuality
SIO_000300: 1.0363e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.393e0

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

GenotypeQuality
all individuals: 160
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10468
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 234
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42234
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66078
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.84e0

MQRankSum
type: SiteQuality
SIO_000300: 2.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 5.991e1

FS
type: SiteQuality
SIO_000300: 2.9e0

VQSLOD
type: SiteQuality
SIO_000300: -8.925e-1

QD
type: SiteQuality
SIO_000300: 1.555e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.794656e6

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1949
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10474
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42269
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512813530604218e-5
allele num: 66102
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.227e1

VQSLOD
type: SiteQuality
SIO_000300: 6.24e-1

FS
type: SiteQuality
SIO_000300: 1.853e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.789e0

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

DP
type: SiteQuality
SIO_000300: 1.794421e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.266e0

GenotypeQuality
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42427
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1701
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 111
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.025810160670519e-5
allele num: 66098
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.298e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.794061e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

QD
type: SiteQuality
SIO_000300: 1.45e1

GenotypeQuality
all individuals: 180
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1701
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10483
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.564525401676299e-5
allele num: 66098
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.298e0

DP
type: SiteQuality
SIO_000300: 1.794061e6

QD
type: SiteQuality
SIO_000300: 1.45e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
all individuals: 686
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42437
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 17
allele frequency: 1.474414570685169e-3
allele num: 11530
num of homozygotes: 0

African
type: Population
allele count: 98
allele frequency: 1.015544041450777e-2
allele num: 9650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 5.151202957396522e-4
allele num: 66004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.257336343115124e-3
allele num: 886
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

FS
type: SiteQuality
SIO_000300: 1.816e0

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.416e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

DP
type: SiteQuality
SIO_000300: 1.802985e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.183e1

GenotypeQuality
all individuals: 166
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10466
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
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: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66004
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164415463437354e-4
allele num: 8588
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.183e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 1.816e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 1.802985e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.416e0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10475
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42499
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66020
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.048e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 2.016e0

DP
type: SiteQuality
SIO_000300: 1.791334e6

MQRankSum
type: SiteQuality
SIO_000300: 4.87e-1

QD
type: SiteQuality
SIO_000300: 1.274e1

GenotypeQuality
all individuals: 10470
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42560
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1943
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1692
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66030
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.037990450487856e-4
allele num: 9634
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.13e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

QD
type: SiteQuality
SIO_000300: 1.281e1

FS
type: SiteQuality
SIO_000300: 4.291e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.03e0

DP
type: SiteQuality
SIO_000300: 1.791196e6

VQSLOD
type: SiteQuality
SIO_000300: 8.129999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.38e-1

GenotypeQuality
all individuals: 131
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 160
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1938
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10435
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 12
allele frequency: 1.041847542976211e-3
allele num: 11518
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215214485356665e-4
allele num: 16458
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.10159810415021e-4
allele num: 65828
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.252252252252252e-3
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

African
type: Population
allele count: 67
allele frequency: 6.98935948257876e-3
allele num: 9586
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.383e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.93e-2

DP
type: SiteQuality
SIO_000300: 1.78766e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42391
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1940
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1687
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 9.75e1
variant carriers: 26

GenotypeQuality
all individuals: 232
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.605071205279611e-4
allele num: 11516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

African
type: Population
allele count: 17
allele frequency: 1.774900814366256e-3
allele num: 9578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.063797452964955e-4
allele num: 65802
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.628e0

DP
type: SiteQuality
SIO_000300: 1.774684e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 1.163e0

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

GenotypeQuality
all individuals: 685
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1683
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 170
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42383
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10444
bin: 6.75e1
variant carriers: 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: 8570
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9558
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65670
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

FS
type: SiteQuality
SIO_000300: 9.278e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.771145e6

GenotypeQuality
all individuals: 42512
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1935
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 230
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.045369015262388e-4
allele num: 9566
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65840
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e-1

FS
type: SiteQuality
SIO_000300: 5.272e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

DP
type: SiteQuality
SIO_000300: 1.771133e6

QD
type: SiteQuality
SIO_000300: 1.23e1

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

GenotypeQuality
all individuals: 844
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 126
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 688
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.04602510460251e-4
allele num: 9560
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: 8566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65842
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.771171e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.48e-1

QD
type: SiteQuality
SIO_000300: 1.273e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.47e-1

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

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 958
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10475
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.343293954134816e-4
allele num: 11512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.646529719217211e-4
allele num: 65816
num of homozygotes: 0

African
type: Population
allele count: 155
allele frequency: 1.622357127904542e-2
allele num: 9554
num of homozygotes: 1

South Asian
type: Population
allele count: 16
allele frequency: 9.724079251245898e-4
allele num: 16454
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.405e1

DP
type: SiteQuality
SIO_000300: 1.776762e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

FS
type: SiteQuality
SIO_000300: 1.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.559e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

GenotypeQuality
all individuals: 141
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 42796
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1940
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 226
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
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: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521005080156968e-5
allele num: 65746
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.68e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.1e-1

FS
type: SiteQuality
SIO_000300: 4.752e0

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

DP
type: SiteQuality
SIO_000300: 1.753763e6

MQ
type: SiteQuality
SIO_000300: 5.896e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1940
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10499
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42732
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9526
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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.042472921990994e-5
allele num: 65736
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.121e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.069e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

FS
type: SiteQuality
SIO_000300: 1.0302e1

DP
type: SiteQuality
SIO_000300: 1.75334e6

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

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10494
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1687
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42706
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1939
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65662
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.052188552188552e-4
allele num: 9504
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: 882
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

QD
type: SiteQuality
SIO_000300: 8.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e0

DP
type: SiteQuality
SIO_000300: 1.752451e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.355e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 274
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1112
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 226
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10492
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.052631578947368e-4
allele num: 9500
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65664
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

DP
type: SiteQuality
SIO_000300: 1.752482e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.264e0

VQSLOD
type: SiteQuality
SIO_000300: 8.47e-1

QD
type: SiteQuality
SIO_000300: 1.401e1

MQRankSum
type: SiteQuality
SIO_000300: 6.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.24e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

FS
type: SiteQuality
SIO_000300: 1.325e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

GenotypeQuality
all individuals: 114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10489
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42747
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524436720631727e-5
allele num: 65598
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: 16456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9482
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.983e1

MQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.383e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

FS
type: SiteQuality
SIO_000300: 1.248e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

DP
type: SiteQuality
SIO_000300: 1.751111e6

QD
type: SiteQuality
SIO_000300: 1.134e1

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 686
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42747
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9482
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524436720631727e-5
allele num: 65598
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.134e1

MQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 1.248e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

DP
type: SiteQuality
SIO_000300: 1.751111e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.383e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

GenotypeQuality
all individuals: 110
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 174
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10472
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1930
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 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: 9448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527370478983382e-5
allele num: 65472
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

FS
type: SiteQuality
SIO_000300: 5.713e0

VQSLOD
type: SiteQuality
SIO_000300: 5.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.55e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.74832e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

GenotypeQuality
all individuals: 666
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1390
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42483
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1682
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10473
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65420
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.645e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.039e1

DP
type: SiteQuality
SIO_000300: 1.747141e6

FS
type: SiteQuality
SIO_000300: 1.321e0

MQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

MQ
type: SiteQuality
SIO_000300: 5.879e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.818e-1

GenotypeQuality
all individuals: 181
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 667
bin: 9.75e1
variant carriers: 32

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1683
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 12
allele frequency: 1.27253446447508e-3
allele num: 9430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.057449475647415e-4
allele num: 65414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.677e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

FS
type: SiteQuality
SIO_000300: 1.357e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

QD
type: SiteQuality
SIO_000300: 1.162e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.33e-1

DP
type: SiteQuality
SIO_000300: 1.747284e6

GenotypeQuality
all individuals: 1930
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.216101179618144e-4
allele num: 16446
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

FS
type: SiteQuality
SIO_000300: 1.7324e1

VQSLOD
type: SiteQuality
SIO_000300: -2.18e0

DP
type: SiteQuality
SIO_000300: 1.743505e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 4.33e0

GenotypeQuality
all individuals: 10453
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42207
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1682
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53298994358597e-5
allele num: 65232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.74196e6

VQSLOD
type: SiteQuality
SIO_000300: 3.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-3

QD
type: SiteQuality
SIO_000300: 1.042e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.933e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

FS
type: SiteQuality
SIO_000300: 1.931e0

GenotypeQuality
all individuals: 136
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41998
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 4.761465917119774e-4
allele num: 65106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.027550711474417e-4
allele num: 6606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
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: 4.25e0

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.304e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.525e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 1.738353e6

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42244
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 132
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1920
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.170138076293003e-4
allele num: 8546
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: 16444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65102
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.929e1

FS
type: SiteQuality
SIO_000300: 7.093e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

QD
type: SiteQuality
SIO_000300: 1.159e1

VQSLOD
type: SiteQuality
SIO_000300: -2.023e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.735845e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.88e-1

GenotypeQuality
all individuals: 42121
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1919
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10418
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65042
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9330
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.237e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.579e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 9.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.368e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 1.734448e6

GenotypeQuality
all individuals: 1915
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42140
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1795
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64992
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.147305132059266e-4
allele num: 9314
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.733355e6

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

FS
type: SiteQuality
SIO_000300: 1.788e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.706e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.618e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.537e0

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

GenotypeQuality
all individuals: 10414
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1917
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42053
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.995e0

DP
type: SiteQuality
SIO_000300: 1.732306e6

FS
type: SiteQuality
SIO_000300: 1.773e0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 1.546e1

VQSLOD
type: SiteQuality
SIO_000300: -2.28e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
all individuals: 1912
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10409
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 682
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41875
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
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: 64790
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.345215759849906e-4
allele num: 8528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9286
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 2.751e0

DP
type: SiteQuality
SIO_000300: 1.729071e6

VQSLOD
type: SiteQuality
SIO_000300: -6.315e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.666e0

MQ
type: SiteQuality
SIO_000300: 5.117e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.625e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2158
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1648
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41536
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1890
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 266
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.084128360797918e-4
allele num: 9224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
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: 1
allele frequency: 1.55115716324378e-5
allele num: 64468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.919e1

DP
type: SiteQuality
SIO_000300: 1.721147e6

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

FS
type: SiteQuality
SIO_000300: 3.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.22e-1

QD
type: SiteQuality
SIO_000300: 1.337e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

GenotypeQuality
all individuals: 41285
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10292
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9156
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.35072872590503e-4
allele num: 8508
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.369e0

QD
type: SiteQuality
SIO_000300: 1.445e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.356e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.44e-1

DP
type: SiteQuality
SIO_000300: 1.711758e6

GenotypeQuality
all individuals: 624
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1826
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10103
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9038
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.162790697674419e-3
allele num: 860
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

DP
type: SiteQuality
SIO_000300: 1.689097e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.23e0

VQSLOD
type: SiteQuality
SIO_000300: 2.02e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

QD
type: SiteQuality
SIO_000300: 1.426e1

GenotypeQuality
all individuals: 520
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 617
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1716
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37988
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9612
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62754
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11270
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.188212927756654e-4
allele num: 8416
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.2265e1

MQ
type: SiteQuality
SIO_000300: 5.604e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.45e-1

QD
type: SiteQuality
SIO_000300: 9.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

DP
type: SiteQuality
SIO_000300: 1.632523e6

VQSLOD
type: SiteQuality
SIO_000300: -3.372e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.56e-1

GenotypeQuality
all individuals: 1716
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9612
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5189
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37988
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.57331655129012e-4
allele num: 6356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11270
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.188212927756654e-4
allele num: 8416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.372e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

MQRankSum
type: SiteQuality
SIO_000300: -7.56e-1

MQ
type: SiteQuality
SIO_000300: 5.604e1

FS
type: SiteQuality
SIO_000300: 1.2265e1

QD
type: SiteQuality
SIO_000300: 9.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

DP
type: SiteQuality
SIO_000300: 1.632523e6

GenotypeQuality
all individuals: 9385
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5919
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1442
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.199385717942155e-5
allele num: 62512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16150
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.192748091603053e-4
allele num: 8384
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.61189e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.242e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.366e1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

FS
type: SiteQuality
SIO_000300: 3.738e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

GenotypeQuality
all individuals: 146
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10850
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31060
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1280
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8078
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 559
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.273525721455458e-5
allele num: 15940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10982
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.905808477237049e-5
allele num: 61152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 11
allele frequency: 1.783976646123905e-3
allele num: 6166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

MQ
type: SiteQuality
SIO_000300: 6.065e1

DP
type: SiteQuality
SIO_000300: 1.482038e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

FS
type: SiteQuality
SIO_000300: 1.687e0

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

QD
type: SiteQuality
SIO_000300: 1.791e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1412
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10923
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8029
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15940
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.635590448151783e-5
allele num: 61140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10976
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.981e1

MQRankSum
type: SiteQuality
SIO_000300: -2.135e0

VQSLOD
type: SiteQuality
SIO_000300: -7.675999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
SIO_000300: 1.479438e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.27e-1

GenotypeQuality
all individuals: 203
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 79
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11710
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.640527593674126e-5
allele num: 60956
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15912
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.064e0

DP
type: SiteQuality
SIO_000300: 1.460902e6

QD
type: SiteQuality
SIO_000300: 1.443e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.396e0

MQRankSum
type: SiteQuality
SIO_000300: 7.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1803
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25545
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 261
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6028
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8070
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.674424835069154e-5
allele num: 59722
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: -6.169e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

FS
type: SiteQuality
SIO_000300: 3.291e0

MQRankSum
type: SiteQuality
SIO_000300: -2.266e0

DP
type: SiteQuality
SIO_000300: 1.337559e6

MQ
type: SiteQuality
SIO_000300: 5.525e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

QD
type: SiteQuality
SIO_000300: 1.7e0

GenotypeQuality
all individuals: 275
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3524
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21640
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5561
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.383293297695977e-5
allele num: 59114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

QD
type: SiteQuality
SIO_000300: 1.512e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

FS
type: SiteQuality
SIO_000300: 3.108e0

VQSLOD
type: SiteQuality
SIO_000300: -1.268e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.043e0

DP
type: SiteQuality
SIO_000300: 1.270918e6

GenotypeQuality
all individuals: 4038
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18952
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5111
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3248
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15674
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.520161290322581e-4
allele num: 7936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58618
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.307e0

MQ
type: SiteQuality
SIO_000300: 5.525e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 4.19e0

FS
type: SiteQuality
SIO_000300: 6.081e0

DP
type: SiteQuality
SIO_000300: 1.22265e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

GenotypeQuality
all individuals: 473
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 277
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4132
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22470
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7902
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.732681844959629e-5
allele num: 57714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10426
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.97e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

DP
type: SiteQuality
SIO_000300: 1.150949e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.25e-1

GenotypeQuality
all individuals: 334
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5636
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11285
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5145
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5590
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.771165426850868e-5
allele num: 56460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.076525e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.318e0

VQSLOD
type: SiteQuality
SIO_000300: -2.392e0

QD
type: SiteQuality
SIO_000300: 6.16e0

MQ
type: SiteQuality
SIO_000300: 5.883e1

GenotypeQuality
all individuals: 23778
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2973
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5299
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 347
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.805771244898696e-5
allele num: 55378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.818843215714805e-4
allele num: 5498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15316
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.416e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.643e0

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

DP
type: SiteQuality
SIO_000300: 1.058484e6

GenotypeQuality
all individuals: 3043
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3503
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24196
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10768
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.793850679869408e-5
allele num: 55746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5516
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 9.3e-1

DP
type: SiteQuality
SIO_000300: 1.055573e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 480
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5967
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2978
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9818
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5484
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.063e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1

DP
type: SiteQuality
SIO_000300: 1.038092e6

MQ
type: SiteQuality
SIO_000300: 5.613e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.03e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1429
bin: 1.75e1
variant carriers: 5

GenotypeQuality
all individuals: 211
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3159
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 862
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 6207
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1717
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1708
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 169
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 461
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 763
bin: 9.75e1
variant carriers: 312

GenotypeQuality
all individuals: 826
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 319
bin: 8.25e1
variant carriers: 6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6812
num of homozygotes: 0

African
type: Population
allele count: 311
allele frequency: 4.456864431069074e-2
allele num: 6978
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4908
num of homozygotes: 0

Latino
type: Population
allele count: 21
allele frequency: 2.336448598130841e-3
allele num: 8988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.940090020176936e-5
allele num: 51544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.47e0

DP
type: SiteQuality
SIO_000300: 9.45951e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.626e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.522e1

GenotypeQuality
all individuals: 410
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3876
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6804
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4817
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16873
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3810
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5758
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.859427296392711e-4
allele num: 5378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.36116358141292e-5
allele num: 42352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.12e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.327e0

DP
type: SiteQuality
SIO_000300: 8.66142e5

QD
type: SiteQuality
SIO_000300: 1.386e1

MQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

MQ
type: SiteQuality
SIO_000300: 5.889e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.14e-1

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3897
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3990
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6778
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6802
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18055
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5803
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2659
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.276452376616281e-5
allele num: 43928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.71e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 8.62771e5

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 3.979e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 1.042e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.85e-1

GenotypeQuality
all individuals: 5494
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8102
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 761
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1907
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3959
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6665
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1411
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39132
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.589e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

FS
type: SiteQuality
SIO_000300: 3.182e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.76e-2

DP
type: SiteQuality
SIO_000300: 8.44042e5

QD
type: SiteQuality
SIO_000300: 1.844e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1458
bin: 4.25e1
variant carriers: 883

GenotypeQuality
all individuals: 860
bin: 7.75e1
variant carriers: 739

GenotypeQuality
all individuals: 3343
bin: 7.5e0
variant carriers: 431

GenotypeQuality
all individuals: 833
bin: 6.75e1
variant carriers: 534

GenotypeQuality
all individuals: 3079
bin: 3.75e1
variant carriers: 1608

GenotypeQuality
all individuals: 658
bin: 5.75e1
variant carriers: 549

GenotypeQuality
all individuals: 722
bin: 7.25e1
variant carriers: 608

GenotypeQuality
all individuals: 3092
bin: 2.75e1
variant carriers: 1070

GenotypeQuality
all individuals: 1322
bin: 5.25e1
variant carriers: 915

GenotypeQuality
all individuals: 4266
bin: 3.25e1
variant carriers: 1848

GenotypeQuality
all individuals: 1137
bin: 6.25e1
variant carriers: 544

GenotypeQuality
all individuals: 623
bin: 9.25e1
variant carriers: 567

GenotypeQuality
all individuals: 757
bin: 8.75e1
variant carriers: 721

East Asian
type: Population
allele count: 4623
allele frequency: 9.093233674272226e-1
allele num: 5084
num of homozygotes: 2094

European (Non-Finnish)
type: Population
allele count: 12845
allele frequency: 3.323415265200517e-1
allele num: 38650
num of homozygotes: 1927

Other
type: Population
allele count: 219
allele frequency: 3.967391304347826e-1
allele num: 552
num of homozygotes: 46

Latino
type: Population
allele count: 4090
allele frequency: 6.229058787694182e-1
allele num: 6566
num of homozygotes: 1231

South Asian
type: Population
allele count: 5360
allele frequency: 4.031894087558297e-1
allele num: 13294
num of homozygotes: 1081

African
type: Population
allele count: 1734
allele frequency: 3.260624294847687e-1
allele num: 5318
num of homozygotes: 267

European (Finnish)
type: Population
allele count: 1016
allele frequency: 3.038277511961722e-1
allele num: 3344
num of homozygotes: 129

QD
type: SiteQuality
SIO_000300: 1.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 7.97583e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.283e-1

GenotypeQuality
all individuals: 9731
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6067
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2957
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6788
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4402
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4959
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.519068381257244e-5
allele num: 36238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4362
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.69e-2

FS
type: SiteQuality
SIO_000300: 3.1e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

QD
type: SiteQuality
SIO_000300: 4.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 8.11782e5

GenotypeQuality
all individuals: 11097
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9731
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6067
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4402
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12752
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4362
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.69e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 3.1e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 8.11782e5

QD
type: SiteQuality
SIO_000300: 4.69e0

GenotypeQuality
all individuals: 297
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3343
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1780
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2968
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1802
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37400
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3078
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515748628247491e-5
allele num: 65974
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.268e0

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

FS
type: SiteQuality
SIO_000300: 2.192e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.214e1

DP
type: SiteQuality
SIO_000300: 3.824383e6

GenotypeQuality
all individuals: 140
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4486
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3255
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2976
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3360
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37404
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 1806
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.42358144748402e-4
allele num: 66018
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.34796900680911e-4
allele num: 8518
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9554
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

FS
type: SiteQuality
SIO_000300: 9.95e-1

DP
type: SiteQuality
SIO_000300: 3.824892e6

QD
type: SiteQuality
SIO_000300: 1.405e1

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3389
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37419
bin: 9.75e1
variant carriers: 502

GenotypeQuality
all individuals: 4965
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1783
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3079
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 157
allele frequency: 2.381674757281553e-2
allele num: 6592
num of homozygotes: 2

Latino
type: Population
allele count: 17
allele frequency: 1.473903242587134e-3
allele num: 11534
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 7.829977628635347e-3
allele num: 894
num of homozygotes: 0

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

African
type: Population
allele count: 9
allele frequency: 9.390651085141904e-4
allele num: 9584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 317
allele frequency: 4.798667877686951e-3
allele num: 66060
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.345e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

FS
type: SiteQuality
SIO_000300: 1.824e0

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

DP
type: SiteQuality
SIO_000300: 3.841229e6

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

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

GenotypeQuality
all individuals: 37222
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3276
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1844
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3110
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3028
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9582
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66058
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.65e-1

FS
type: SiteQuality
SIO_000300: 3.778e0

MQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

QD
type: SiteQuality
SIO_000300: 1.443e1

DP
type: SiteQuality
SIO_000300: 3.813385e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3