17-65082976-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65082976
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65082976
    reference: chr 17
allele count: 5
allele frequency: 4.140238146498186e-5
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5463C>T
  hgvsp: ENST00000358691.5:c.5463C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*2130C>T
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5466C>T
  hgvsp: ENST00000580168.1:c.5466C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8897
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser1821Ser
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

17-65082982-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65082982
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65082982
    reference: chr 17
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5457T>C
  hgvsp: ENST00000358691.5:c.5457T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5460T>C
  hgvsp: ENST00000580168.1:c.5460T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*2124T>C
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8791
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8893
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26377
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn1819Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

17-65082983-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65082983
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65082983
    reference: chr 17
allele count: 2
allele frequency: 1.656122685568547e-5
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5456A>G
  hgvsp: ENSP00000351524.5:p.Asn1819Ser
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5459A>G
  hgvsp: ENSP00000464512.1:p.Asn1820Ser
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*2123A>G
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26378
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4905
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 12
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genotype quality: GenotypeQuality
  all individuals: 3434
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2528
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genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8893
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8791
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn1819Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

17-65082988-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65082988
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65082988
    reference: chr 17
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5451G>A
  hgvsp: ENST00000358691.5:c.5451G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5454G>A
  hgvsp: ENST00000580168.1:c.5454G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*2118G>A
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14298
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 8789
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 104
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4905
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 8892
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro1817Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

17-65082989-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65082989
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65082989
    reference: chr 17
allele count: 4
allele frequency: 3.312135665076842e-5
allele num: 120768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5453C>T
  hgvsp: ENSP00000464512.1:p.Pro1818Leu
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5450C>T
  hgvsp: ENSP00000351524.5:p.Pro1817Leu
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*2117C>T
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8596
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8891
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4906
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8789
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro1817Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

17-65082990-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65082990
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65082990
    reference: chr 17
allele count: 6
allele frequency: 4.968203497615263e-5
allele num: 120768
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5449C>T
  hgvsp: ENSP00000351524.5:p.Pro1817Ser
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*2116C>T
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5452C>T
  hgvsp: ENSP00000464512.1:p.Pro1818Ser
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8888
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26382
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro1817Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

17-65082993-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65082993
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65082993
    reference: chr 17
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*2113A>G
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5446A>G
  hgvsp: ENSP00000351524.5:p.Ile1816Val
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5449A>G
  hgvsp: ENSP00000464512.1:p.Ile1817Val
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4906
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8884
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26388
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile1816Val
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

17-65083005-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083005
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083005
    reference: chr 17
allele count: 4
allele frequency: 3.31208081477188e-5
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5434C>T
  hgvsp: ENSP00000351524.5:p.Pro1812Ser
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*2101C>T
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5437C>T
  hgvsp: ENSP00000464512.1:p.Pro1813Ser
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26389
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4904
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8883
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8792
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro1812Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

17-65083005-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083005
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083005
    reference: chr 17
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*2101C>G
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5434C>G
  hgvsp: ENSP00000351524.5:p.Pro1812Ala
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5437C>G
  hgvsp: ENSP00000464512.1:p.Pro1813Ala
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21602
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8792
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4904
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8883
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26389
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro1812Ala
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-65083018-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083018
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083018
    reference: chr 17
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5424C>T
  hgvsp: ENST00000580168.1:c.5424C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*2088C>T
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5421C>T
  hgvsp: ENST00000358691.5:c.5421C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26394
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8879
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr1807Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum

17-65083033-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083033
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083033
    reference: chr 17
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5406G>A
  hgvsp: ENST00000358691.5:c.5406G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5409G>A
  hgvsp: ENST00000580168.1:c.5409G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*2073G>A
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26392
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 8792
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8878
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu1802Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

17-65083037-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083037
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083037
    reference: chr 17
allele count: 2
allele frequency: 1.656067832538421e-5
allele num: 120768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5405C>T
  hgvsp: ENSP00000464512.1:p.Pro1802Leu
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*2069C>T
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5402C>T
  hgvsp: ENSP00000351524.5:p.Pro1801Leu
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26392
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8877
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 8793
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro1801Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

17-65083042-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083042
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083042
    reference: chr 17
allele count: 3
allele frequency: 2.484101748807631e-5
allele num: 120768
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5397A>G
  hgvsp: ENST00000358691.5:c.5397A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5400A>G
  hgvsp: ENST00000580168.1:c.5400A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*2064A>G
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8877
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 26393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4904
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser1799Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

17-65083043-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083043
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083043
    reference: chr 17
allele count: 3
allele frequency: 2.484101748807631e-5
allele num: 120768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*2063C>T
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5399C>T
  hgvsp: ENSP00000464512.1:p.Ser1800Leu
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5396C>T
  hgvsp: ENSP00000351524.5:p.Ser1799Leu
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8877
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8795
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4904
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26392
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser1799Leu
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-65083044-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083044
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083044
    reference: chr 17
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*2062T>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5398T>C
  hgvsp: ENSP00000464512.1:p.Ser1800Pro
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5395T>C
  hgvsp: ENSP00000351524.5:p.Ser1799Pro
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8874
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8795
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26394
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3436
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4904
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser1799Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

17-65083049-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083049
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083049
    reference: chr 17
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*2057A>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5390A>C
  hgvsp: ENSP00000351524.5:p.Asn1797Thr
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5393A>C
  hgvsp: ENSP00000464512.1:p.Asn1798Thr
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26394
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8873
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4904
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8793
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn1797Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

17-65083062-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083062
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083062
    reference: chr 17
allele count: 7
allele frequency: 5.796237413884473e-5
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5377C>A
  hgvsp: ENSP00000351524.5:p.Gln1793Lys
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*2044C>A
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5380C>A
  hgvsp: ENSP00000464512.1:p.Gln1794Lys
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8794
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26395
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3436
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8871
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln1793Lys
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

17-65083081-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083081
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083081
    reference: chr 17
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5361G>C
  hgvsp: ENSP00000464512.1:p.Glu1787Asp
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5358G>C
  hgvsp: ENSP00000351524.5:p.Glu1786Asp
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*2025G>C
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21613
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4906
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26398
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8795
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8864
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu1786Asp
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS

17-65083103-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083103
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083103
    reference: chr 17
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5339A>G
  hgvsp: ENSP00000464512.1:p.Asp1780Gly
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*2003A>G
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5336A>G
  hgvsp: ENSP00000351524.5:p.Asp1779Gly
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4907
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8794
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8862
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp1779Gly
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

17-65083106-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083106
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083106
    reference: chr 17
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*2000A>G
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5333A>G
  hgvsp: ENSP00000351524.5:p.Gln1778Arg
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5336A>G
  hgvsp: ENSP00000464512.1:p.Gln1779Arg
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8795
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8861
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln1778Arg
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

17-65083118-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083118
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083118
    reference: chr 17
allele count: 6
allele frequency: 4.968532626697582e-5
allele num: 120760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5324T>C
  hgvsp: ENSP00000464512.1:p.Val1775Ala
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5321T>C
  hgvsp: ENSP00000351524.5:p.Val1774Ala
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1988T>C
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8793
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8859
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26389
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val1774Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-65083119-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083119
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083119
    reference: chr 17
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5323G>T
  hgvsp: ENSP00000464512.1:p.Val1775Leu
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1987G>T
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5320G>T
  hgvsp: ENSP00000351524.5:p.Val1774Leu
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8793
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8855
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val1774Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

17-65083120-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083120
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083120
    reference: chr 17
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1986A>G
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5322A>G
  hgvsp: ENST00000580168.1:c.5322A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5319A>G
  hgvsp: ENST00000358691.5:c.5319A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26395
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8794
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8854
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu1773Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

17-65083123-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083123
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083123
    reference: chr 17
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5316A>G
  hgvsp: ENST00000358691.5:c.5316A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5319A>G
  hgvsp: ENST00000580168.1:c.5319A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1983A>G
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26399
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8853
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8794
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu1772Glu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

17-65083127-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083127
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083127
    reference: chr 17
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1979C>G
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5312C>G
  hgvsp: ENSP00000351524.5:p.Ser1771Cys
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5315C>G
  hgvsp: ENSP00000464512.1:p.Ser1772Cys
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8852
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4905
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser1771Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

17-65083135-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083135
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083135
    reference: chr 17
allele count: 87
allele frequency: 7.204610951008645e-4
allele num: 120756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1971A>G
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5304A>G
  hgvsp: ENST00000358691.5:c.5304A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5307A>G
  hgvsp: ENST00000580168.1:c.5307A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 14297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 21617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 8853
  bin: 9.75e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8781
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4902
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln1768Gln
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

17-65083148-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083148
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083148
    reference: chr 17
allele count: 2
allele frequency: 1.656369569178275e-5
allele num: 120746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1958C>G
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5291C>G
  hgvsp: ENSP00000351524.5:p.Ser1764Cys
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5294C>G
  hgvsp: ENSP00000464512.1:p.Ser1765Cys
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4913
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8776
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser1764Cys
num of homozygotes: 1
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

17-65083156-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083156
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083156
    reference: chr 17
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5286A>T
  hgvsp: ENSP00000464512.1:p.Arg1762Ser
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1950A>T
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5283A>T
  hgvsp: ENSP00000351524.5:p.Arg1761Ser
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8775
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg1761Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

17-65083174-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083174
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083174
    reference: chr 17
allele count: 1
allele frequency: 8.293111741387604e-6
allele num: 120582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1932G>A
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5265G>A
  hgvsp: ENST00000358691.5:c.5265G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5268G>A
  hgvsp: ENST00000580168.1:c.5268G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4897
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8767
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3420
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg1755Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-65083191-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083191
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083191
    reference: chr 17
allele count: 1
allele frequency: 8.310065150910783e-6
allele num: 120336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5251C>T
  hgvsp: ENSP00000464512.1:p.Pro1751Ser
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1915C>T
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5248C>T
  hgvsp: ENSP00000351524.5:p.Pro1750Ser
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8660
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3703
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8761
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4869
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro1750Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

17-65083215-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083215
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083215
    reference: chr 17
allele count: 1
allele frequency: 8.359386755387625e-6
allele num: 119626
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5242-18T>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5245-18T>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1909-18T>C
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3662
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8201
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4779
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-65083218-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083218
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083218
    reference: chr 17
allele count: 45
allele frequency: 3.763674684687699e-4
allele num: 119564
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5242-21A>T
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1909-21A>T
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5245-21A>T
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 20152
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7752
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13456
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8764
  bin: 9.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3653
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 534
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8104
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-65083221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083221
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083221
    reference: chr 17
allele count: 1
allele frequency: 8.373105584861425e-6
allele num: 119430
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5242-24G>A
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5245-24G>A
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1909-24G>A
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-65083224-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083224
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083224
    reference: chr 17
allele count: 1
allele frequency: 8.381246123673667e-6
allele num: 119314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1909-27T>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5245-27T>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5242-27T>C
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12893
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8722
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-65083225-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083225
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083225
    reference: chr 17
allele count: 1
allele frequency: 8.380965151946898e-6
allele num: 119318
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5242-28T>G
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5245-28T>G
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1909-28T>G
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8722
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

17-65083225-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083225
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083225
    reference: chr 17
allele count: 1
allele frequency: 8.380965151946898e-6
allele num: 119318
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5242-28T>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1909-28T>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5245-28T>C
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4702
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

17-65083233-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083233
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083233
    reference: chr 17
allele count: 1
allele frequency: 8.409580193756727e-6
allele num: 118912
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5245-36G>A
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1909-36G>A
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5242-36G>A
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4557
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS

17-65083235-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083235
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083235
    reference: chr 17
allele count: 1
allele frequency: 8.4088730428348e-6
allele num: 118922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1909-38G>A
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5245-38G>A
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5242-38G>A
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3571
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8710
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4521
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

17-65083236-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083236
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083236
    reference: chr 17
allele count: 1
allele frequency: 8.419492809753141e-6
allele num: 118772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1909-39G>A
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5245-39G>A
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5242-39G>A
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3561
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2999
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8708
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

17-65083245-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65083245
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65083245
    reference: chr 17
allele count: 33
allele frequency: 2.79570985614802e-4
allele num: 118038
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5242-48A>G
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1909-48A>G
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5245-48A>G
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7487
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9805
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12069
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10885
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4077
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5903
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8720
  bin: 9.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

17-65103235-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103235
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103235
    reference: chr 17
allele count: 1434
allele frequency: 1.282142984871786e-2
allele num: 111844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5244+50T>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1908+50T>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5241+50T>C
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 2.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 7.5e0
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 12566
  bin: 3.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 1.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 4.75e1
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.25e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 3.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 21541
  bin: 2.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 4.25e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 7803
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3460
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 2.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8672
  bin: 9.75e1
  variant carriers: 1409
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 25520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 9.25e1
  variant carriers: 8
num of homozygotes: 26
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

17-65103235-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103235
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103235
    reference: chr 17
allele count: 12
allele frequency: 1.072922999892708e-4
allele num: 111844
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5241+50T>A
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1908+50T>A
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5244+50T>A
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12566
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3460
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7803
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8672
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-65103239-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103239
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103239
    reference: chr 17
allele count: 4
allele frequency: 3.575578796817735e-5
allele num: 111870
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1908+46A>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5241+46A>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5244+46A>C
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26383
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7495
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

17-65103247-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103247
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103247
    reference: chr 17
allele count: 1
allele frequency: 8.922039221284417e-6
allele num: 112082
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5241+38T>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5244+38T>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1908+38T>C
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 710
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 7999
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
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genotype quality: GenotypeQuality
  all individuals: 68
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum

17-65103263-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103263
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103262
    reference: chr 17
allele count: 2
allele frequency: 1.768690638320451e-5
allele num: 113078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1908+21delC
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5241+21delC
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5244+21delC
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 594
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 8047
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 7488
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: AG
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

17-65103266-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103266
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103266
    reference: chr 17
allele count: 3
allele frequency: 2.646342754313539e-5
allele num: 113364
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5241+19T>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1908+19T>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5244+19T>C
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8057
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7486
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3529
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

17-65103270-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103270
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103270
    reference: chr 17
allele count: 1213
allele frequency: 1.066242396540206e-2
allele num: 113764
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5241+15A>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1908+15A>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5244+15A>C
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 22360
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 12805
  bin: 3.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 518
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 7803
  bin: 9.75e1
  variant carriers: 1147
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8025
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 62
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-65103270-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103270
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103269
    reference: chr 17
allele count: 1
allele frequency: 8.790126929432861e-6
allele num: 113764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1908+14delT
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5241+14delT
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5244+14delT
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7803
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: TA
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-65103275-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103275
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103275
    reference: chr 17
allele count: 3
allele frequency: 2.619355289351447e-5
allele num: 114532
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5241+10T>G
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5244+10T>G
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1908+10T>G
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3583
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6863
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29480
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

17-65103276-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103276
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103276
    reference: chr 17
allele count: 2
allele frequency: 1.743983257760725e-5
allele num: 114680
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5241+9C>T
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1908+9C>T
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5244+9C>T
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2936
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3584
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6860
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8200
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

17-65103296-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103296
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103296
    reference: chr 17
allele count: 1
allele frequency: 8.388135820695209e-6
allele num: 119216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1897A>G
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5233A>G
  hgvsp: ENSP00000464512.1:p.Ser1745Gly
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5230A>G
  hgvsp: ENSP00000351524.5:p.Ser1744Gly
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2798
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 30
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genotype quality: GenotypeQuality
  all individuals: 2569
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genotype quality: GenotypeQuality
  all individuals: 6859
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser1744Gly
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-65103317-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103317
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103317
    reference: chr 17
allele count: 1
allele frequency: 8.296689620841284e-6
allele num: 120530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5212G>A
  hgvsp: ENSP00000464512.1:p.Val1738Ile
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5209G>A
  hgvsp: ENSP00000351524.5:p.Val1737Ile
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1876G>A
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 6859
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val1737Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-65103329-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103329
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103329
    reference: chr 17
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1864T>A
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5197T>A
  hgvsp: ENSP00000351524.5:p.Ser1733Thr
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5200T>A
  hgvsp: ENSP00000464512.1:p.Ser1734Thr
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser1733Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

17-65103331-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103331
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103331
    reference: chr 17
allele count: 7
allele frequency: 5.799695101743223e-5
allele num: 120696
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5195T>C
  hgvsp: ENSP00000351524.5:p.Leu1732Ser
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5198T>C
  hgvsp: ENSP00000464512.1:p.Leu1733Ser
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1862T>C
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11237
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23941
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6862
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu1732Ser
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

17-65103335-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103335
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103335
    reference: chr 17
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5191C>T
  hgvsp: ENSP00000351524.5:p.Pro1731Ser
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1858C>T
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5194C>T
  hgvsp: ENSP00000464512.1:p.Pro1732Ser
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3628
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6857
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro1731Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-65103342-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103342
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103342
    reference: chr 17
allele count: 17
allele frequency: 1.408124047445497e-4
allele num: 120728
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5184A>T
  hgvsp: ENST00000358691.5:c.5184A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1851A>T
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5187A>T
  hgvsp: ENST00000580168.1:c.5187A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8518
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6858
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro1728Pro
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQ

17-65103346-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103346
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103346
    reference: chr 17
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5183A>G
  hgvsp: ENSP00000464512.1:p.Glu1728Gly
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5180A>G
  hgvsp: ENSP00000351524.5:p.Glu1727Gly
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1847A>G
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3631
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33384
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6846
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu1727Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-65103356-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103356
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103356
    reference: chr 17
allele count: 3
allele frequency: 2.484266313348791e-5
allele num: 120760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5173A>G
  hgvsp: ENSP00000464512.1:p.Ile1725Val
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5170A>G
  hgvsp: ENSP00000351524.5:p.Ile1724Val
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1837A>G
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6845
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile1724Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-65103361-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103361
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103361
    reference: chr 17
allele count: 5
allele frequency: 4.140238146498186e-5
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5165A>G
  hgvsp: ENSP00000351524.5:p.His1722Arg
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5168A>G
  hgvsp: ENSP00000464512.1:p.His1723Arg
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1832A>G
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33398
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3631
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8525
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6847
  bin: 9.75e1
  variant carriers: 5
hgvs: p.His1722Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

17-65103366-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103366
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103366
    reference: chr 17
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5163T>A
  hgvsp: ENSP00000464512.1:p.His1721Gln
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5160T>A
  hgvsp: ENSP00000351524.5:p.His1720Gln
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1827T>A
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33404
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6842
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His1720Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

17-65103373-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103373
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103373
    reference: chr 17
allele count: 18
allele frequency: 1.490436366647346e-4
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5156A>G
  hgvsp: ENSP00000464512.1:p.Gln1719Arg
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5153A>G
  hgvsp: ENSP00000351524.5:p.Gln1718Arg
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1820A>G
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3631
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2572
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2825
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genotype quality: GenotypeQuality
  all individuals: 8527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6849
  bin: 9.75e1
  variant carriers: 18
hgvs: p.Gln1718Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

17-65103377-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103377
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103377
    reference: chr 17
allele count: 18
allele frequency: 1.490461049284579e-4
allele num: 120768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5152A>G
  hgvsp: ENSP00000464512.1:p.Ile1718Val
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1816A>G
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5149A>G
  hgvsp: ENSP00000351524.5:p.Ile1717Val
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2179
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 239
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
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genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8529
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3631
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33416
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6834
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile1717Val
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

17-65103389-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103389
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103389
    reference: chr 17
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1804C>T
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5137C>T
  hgvsp: ENSP00000351524.5:p.Pro1713Ser
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5140C>T
  hgvsp: ENSP00000464512.1:p.Pro1714Ser
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6823
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro1713Ser
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

17-65103389-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103389
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103389
    reference: chr 17
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1804C>G
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5137C>G
  hgvsp: ENSP00000351524.5:p.Pro1713Ala
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5140C>G
  hgvsp: ENSP00000464512.1:p.Pro1714Ala
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6823
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro1713Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

17-65103396-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103396
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103396
    reference: chr 17
allele count: 56
allele frequency: 4.636989931107578e-4
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5130G>A
  hgvsp: ENST00000358691.5:c.5130G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5133G>A
  hgvsp: ENST00000580168.1:c.5133G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1797G>A
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 9.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33419
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1473
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro1710Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

17-65103397-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103397
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103397
    reference: chr 17
allele count: 7
allele frequency: 5.796237413884473e-5
allele num: 120768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5132C>T
  hgvsp: ENSP00000464512.1:p.Pro1711Leu
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5129C>T
  hgvsp: ENSP00000351524.5:p.Pro1710Leu
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1796C>T
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6811
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33429
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8534
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro1710Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

17-65103399-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103399
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103399
    reference: chr 17
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1794A>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5130A>C
  hgvsp: ENST00000580168.1:c.5130A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5127A>C
  hgvsp: ENST00000358691.5:c.5127A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8536
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6807
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33431
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro1709Pro
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-65103405-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103405
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103405
    reference: chr 17
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5121C>G
  hgvsp: ENSP00000351524.5:p.His1707Gln
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1788C>G
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5124C>G
  hgvsp: ENSP00000464512.1:p.His1708Gln
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8536
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6806
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His1707Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

17-65103406-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103406
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103406
    reference: chr 17
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5120A>T
  hgvsp: ENSP00000351524.5:p.His1707Leu
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5123A>T
  hgvsp: ENSP00000464512.1:p.His1708Leu
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1787A>T
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33434
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6805
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His1707Leu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

17-65103427-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103427
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103427
    reference: chr 17
allele count: 2
allele frequency: 1.65604040738594e-5
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5099A>G
  hgvsp: ENSP00000351524.5:p.Tyr1700Cys
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1766A>G
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5102A>G
  hgvsp: ENSP00000464512.1:p.Tyr1701Cys
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6805
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33434
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8537
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr1700Cys
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: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD

17-65103435-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103435
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103435
    reference: chr 17
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1758T>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5094T>C
  hgvsp: ENST00000580168.1:c.5094T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5091T>C
  hgvsp: ENST00000358691.5:c.5091T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6804
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly1697Gly
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

17-65103444-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103444
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103444
    reference: chr 17
allele count: 3
allele frequency: 2.48406061107891e-5
allele num: 120770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1749G>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5085G>C
  hgvsp: ENSP00000464512.1:p.Met1695Ile
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5082G>C
  hgvsp: ENSP00000351524.5:p.Met1694Ile
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6805
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3633
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met1694Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

17-65103444-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103444
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103444
    reference: chr 17
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1749G>A
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5082G>A
  hgvsp: ENSP00000351524.5:p.Met1694Ile
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5085G>A
  hgvsp: ENSP00000464512.1:p.Met1695Ile
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3633
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6805
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Met1694Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-65103446-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103446
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103446
    reference: chr 17
allele count: 6
allele frequency: 4.968121222157821e-5
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1747A>G
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5083A>G
  hgvsp: ENSP00000464512.1:p.Met1695Val
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5080A>G
  hgvsp: ENSP00000351524.5:p.Met1694Val
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33430
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6805
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Met1694Val
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

17-65103447-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103447
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103447
    reference: chr 17
allele count: 3
allele frequency: 2.48406061107891e-5
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1746A>G
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5082A>G
  hgvsp: ENST00000580168.1:c.5082A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5079A>G
  hgvsp: ENST00000358691.5:c.5079A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33430
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu1693Leu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-65103447-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65103447
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 65103447
    reference: chr 17
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000351524
  ensembl transcript: ENST00000358691
  gene symbol: HELZ
  hgvsc: ENST00000358691.5:c.5079A>C
  hgvsp: ENST00000358691.5:c.5079A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000463727
  ensembl transcript: ENST00000579953
  gene symbol: HELZ
  hgvsc: ENST00000579953.1:c.*1746A>C
  variant of: http://identifiers.org/hgnc/16878
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198265
  ensembl protein: ENSP00000464512
  ensembl transcript: ENST00000580168
  gene symbol: HELZ
  hgvsc: ENST00000580168.1:c.5082A>C
  hgvsp: ENST00000580168.1:c.5082A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16878
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13309
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33430
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6800
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu1693Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: T

GenotypeQuality
all individuals: 8790
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.080799836768007e-4
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.984e1

DP
type: SiteQuality
SIO_000300: 1.954736e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 5.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.16e0

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

QD
type: SiteQuality
SIO_000300: 1.225e1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
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: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.141e0

FS
type: SiteQuality
SIO_000300: 2.359e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 1.954373e6

QD
type: SiteQuality
SIO_000300: 1.264e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.954405e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.63e-1

FS
type: SiteQuality
SIO_000300: 9.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

QD
type: SiteQuality
SIO_000300: 1.607e1

GenotypeQuality
all individuals: 3435
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
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: 9802
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.58e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.59e-1

FS
type: SiteQuality
SIO_000300: 5.731e0

VQSLOD
type: SiteQuality
SIO_000300: -1.506e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.99e-1

DP
type: SiteQuality
SIO_000300: 1.954213e6

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.040399918384003e-4
allele num: 9802
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: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

DP
type: SiteQuality
SIO_000300: 1.954458e6

FS
type: SiteQuality
SIO_000300: 5.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

GenotypeQuality
all individuals: 3735
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.990380293086398e-5
allele num: 66738
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.73e-1

QD
type: SiteQuality
SIO_000300: 1.249e1

FS
type: SiteQuality
SIO_000300: 1.123e0

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.104e0

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

DP
type: SiteQuality
SIO_000300: 1.954712e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

GenotypeQuality
all individuals: 3735
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.505e0

MQ
type: SiteQuality
SIO_000300: 5.882e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.783e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.562e1

FS
type: SiteQuality
SIO_000300: 7.693e0

MQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.57e-1

DP
type: SiteQuality
SIO_000300: 1.954014e6

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

East Asian
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allele frequency: 1.159285879897983e-4
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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Latino
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African
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Other
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South Asian
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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QD
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FS
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DP
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InbreedingCoeff
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GenotypeQuality
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East Asian
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African
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South Asian
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Latino
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European (Finnish)
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Other
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European (Non-Finnish)
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allele frequency: 1.243743818743069e-3
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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DP
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QD
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BaseQRankSum
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GenotypeQuality
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Other
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African
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East Asian
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Latino
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FS
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MQ
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InbreedingCoeff
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QD
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VQSLOD
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DP
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GenotypeQuality
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variant carriers: 0

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

South Asian
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num of homozygotes: 0

European (Finnish)
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Latino
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Other
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European (Non-Finnish)
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East Asian
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African
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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FS
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DP
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QD
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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South Asian
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Latino
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African
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VQSLOD
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DP
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InbreedingCoeff
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BaseQRankSum
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MQ
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FS
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ReadPosRankSum
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MQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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South Asian
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Latino
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Other
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VQSLOD
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MQ
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DP
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InbreedingCoeff
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MQRankSum
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FS
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QD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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European (Finnish)
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South Asian
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East Asian
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African
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European (Non-Finnish)
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Latino
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Other
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QD
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InbreedingCoeff
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FS
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VQSLOD
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MQ
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MQRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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South Asian
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East Asian
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African
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Latino
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European (Finnish)
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Other
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European (Non-Finnish)
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InbreedingCoeff
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BaseQRankSum
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FS
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MQ
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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East Asian
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Other
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South Asian
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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BaseQRankSum
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DP
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ReadPosRankSum
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QD
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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FS
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MQRankSum
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MQ
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GenotypeQuality
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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African
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Other
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East Asian
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VQSLOD
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InbreedingCoeff
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SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.406e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

DP
type: SiteQuality
SIO_000300: 1.861619e6

GenotypeQuality
all individuals: 337
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9608
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515656734062869e-5
allele num: 65978
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.406e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.861619e6

GenotypeQuality
all individuals: 711
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9546
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.230529595015576e-5
allele num: 16050
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.122e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.464e0

DP
type: SiteQuality
SIO_000300: 1.808945e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.45e-1

QD
type: SiteQuality
SIO_000300: 3.71e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 3010
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519849230956289e-5
allele num: 65796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16062
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
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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: 11492
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.024e0

FS
type: SiteQuality
SIO_000300: 4.441e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.282e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.806356e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.34e0

GenotypeQuality
all individuals: 294
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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: 0
allele frequency: 0.0e0
allele num: 9526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521375323292256e-5
allele num: 65730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.933e0

QD
type: SiteQuality
SIO_000300: 1.717e1

MQ
type: SiteQuality
SIO_000300: 5.889e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.593e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.799847e6

GenotypeQuality
all individuals: 194
bin: 1.25e1
variant carriers: 0

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

African
type: Population
allele count: 33
allele frequency: 3.503928647271183e-3
allele num: 9418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.84e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

DP
type: SiteQuality
SIO_000300: 1.752373e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

QD
type: SiteQuality
SIO_000300: 1.525e1

GenotypeQuality
all individuals: 1080
bin: 8.75e1
variant carriers: 9

Other
type: Population
allele count: 14
allele frequency: 1.732673267326733e-2
allele num: 808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 896
allele frequency: 1.395812562313061e-2
allele num: 64192
num of homozygotes: 13

European (Finnish)
type: Population
allele count: 263
allele frequency: 3.976413667977018e-2
allele num: 6614
num of homozygotes: 4

Latino
type: Population
allele count: 32
allele frequency: 2.781157656874674e-3
allele num: 11506
num of homozygotes: 0

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

African
type: Population
allele count: 20
allele frequency: 2.079002079002079e-3
allele num: 9620
num of homozygotes: 0

South Asian
type: Population
allele count: 209
allele frequency: 1.976920166477488e-2
allele num: 10572
num of homozygotes: 9

DP
type: SiteQuality
SIO_000300: 1.873073e6

VQSLOD
type: SiteQuality
SIO_000300: 6.22e0

QD
type: SiteQuality
SIO_000300: 1.627e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.58e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

GenotypeQuality
all individuals: 2657
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.402043868394816e-4
allele num: 64192
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 2.837684449489217e-4
allele num: 10572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
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: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.22e0

DP
type: SiteQuality
SIO_000300: 1.873073e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.58e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.627e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

GenotypeQuality
all individuals: 3536
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
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: 64198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 4.161464835622139e-4
allele num: 9612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10596
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.672e1

DP
type: SiteQuality
SIO_000300: 1.842139e6

GenotypeQuality
all individuals: 2711
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556517137253681e-5
allele num: 64246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10732
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9624
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

MQRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.417e1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-2

DP
type: SiteQuality
SIO_000300: 1.848013e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.746e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.34e-1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
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: 820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64594
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.336994624912363e-4
allele num: 8558
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.164e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 6.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.863518e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 6.013e1

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.097893432465923e-4
allele num: 9684
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64684
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.549e0

QD
type: SiteQuality
SIO_000300: 1.497e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.52e-1

DP
type: SiteQuality
SIO_000300: 1.86675e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.98e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: -3.92e-1

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 4.012469520664218e-4
allele num: 64798
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 8.454106280193236e-3
allele num: 828
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.706484641638225e-4
allele num: 11720
num of homozygotes: 0

African
type: Population
allele count: 1107
allele frequency: 1.14100185528757e-1
allele num: 9702
num of homozygotes: 62

Latino
type: Population
allele count: 71
allele frequency: 6.159986118341142e-3
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.07e0

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.82e-2

FS
type: SiteQuality
SIO_000300: 1.814e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 1.920415e6

QD
type: SiteQuality
SIO_000300: 1.71e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

GenotypeQuality
all individuals: 8025
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543257507947776e-5
allele num: 64798
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: 11720
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.82e-2

FS
type: SiteQuality
SIO_000300: 1.814e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.07e0

DP
type: SiteQuality
SIO_000300: 1.920415e6

QD
type: SiteQuality
SIO_000300: 1.71e1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeQuality
all individuals: 2549
bin: 8.25e1
variant carriers: 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: 3
allele frequency: 2.459016393442623e-4
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East Asian
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Latino
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European (Non-Finnish)
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African
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Other
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ReadPosRankSum
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MQRankSum
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FS
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MQ
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BaseQRankSum
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DP
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ClippingRankSum
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QD
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.536475938786798e-5
allele num: 65084
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South Asian
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Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.668515950069348e-5
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East Asian
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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DP
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QD
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MQ
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 1.021450459652707e-4
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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Other
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South Asian
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BaseQRankSum
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MQ
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QD
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InbreedingCoeff
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FS
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DP
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MQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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East Asian
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South Asian
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Latino
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.500780405811022e-5
allele num: 66632
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African
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InbreedingCoeff
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MQ
type: SiteQuality
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MQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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QD
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DP
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

African
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South Asian
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Latino
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Other
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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ClippingRankSum
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FS
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
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allele frequency: 4.243967503334546e-4
allele num: 16494
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African
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allele frequency: 0.0e0
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East Asian
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Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66684
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MQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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DP
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 900
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East Asian
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African
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allele frequency: 0.0e0
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Latino
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allele num: 11576
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South Asian
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allele frequency: 6.06060606060606e-5
allele num: 16500
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FS
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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VQSLOD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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MQ
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ClippingRankSum
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DP
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GenotypeQuality
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variant carriers: 0

South Asian
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African
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allele frequency: 1.632319934707203e-3
allele num: 9802
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
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East Asian
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Other
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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DP
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FS
type: SiteQuality
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QD
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MQ
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GenotypeQuality
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variant carriers: 0

Latino
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allele num: 11576
num of homozygotes: 0

South Asian
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allele frequency: 6.05766900896535e-5
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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Other
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DP
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QD
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FS
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MQ
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 1.727712508638562e-4
allele num: 11576
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European (Finnish)
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European (Non-Finnish)
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Other
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East Asian
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African
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South Asian
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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QD
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FS
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MQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

South Asian
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European (Finnish)
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African
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Latino
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East Asian
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Other
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European (Non-Finnish)
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VQSLOD
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FS
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BaseQRankSum
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DP
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MQ
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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Other
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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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Latino
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East Asian
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QD
type: SiteQuality
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InbreedingCoeff
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MQ
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VQSLOD
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DP
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ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 1.198681450404555e-4
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Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

ReadPosRankSum
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MQRankSum
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FS
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QD
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InbreedingCoeff
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MQ
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BaseQRankSum
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VQSLOD
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DP
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ClippingRankSum
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GenotypeQuality
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Other
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Latino
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South Asian
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African
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East Asian
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European (Non-Finnish)
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allele frequency: 1.798022175606832e-4
allele num: 66740
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European (Finnish)
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allele frequency: 1.511944360447536e-4
allele num: 6614
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MQ
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QD
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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FS
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ClippingRankSum
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DP
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ReadPosRankSum
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MQRankSum
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Latino
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East Asian
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European (Non-Finnish)
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ClippingRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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FS
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QD
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VQSLOD
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MQ
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MQRankSum
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GenotypeQuality
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South Asian
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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BaseQRankSum
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DP
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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ReadPosRankSum
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BaseQRankSum
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DP
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MQ
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FS
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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QD
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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Latino
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QD
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DP
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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GenotypeQuality
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Latino
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South Asian
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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MQ
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QD
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DP
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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South Asian
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European (Finnish)
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European (Non-Finnish)
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East Asian
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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FS
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InbreedingCoeff
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QD
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MQ
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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FS
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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MQRankSum
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MQ
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VQSLOD
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QD
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ClippingRankSum
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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East Asian
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African
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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QD
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InbreedingCoeff
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FS
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DP
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VQSLOD
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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QD
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VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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DP
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InbreedingCoeff
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MQRankSum
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MQ
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GenotypeQuality
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African
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South Asian
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FS
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MQRankSum
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DP
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QD
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQ
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GenotypeQuality
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African
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South Asian
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InbreedingCoeff
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FS
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MQ
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VQSLOD
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MQRankSum
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DP
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QD
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GenotypeQuality
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African
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DP
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InbreedingCoeff
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ClippingRankSum
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QD
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VQSLOD
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MQ
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FS
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MQRankSum
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GenotypeQuality
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InbreedingCoeff
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QD
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ClippingRankSum
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VQSLOD
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MQ
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DP
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GenotypeQuality
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0