1-43917447-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917447
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917447
    reference: chr 1
allele count: 13
allele frequency: 1.072642661473976e-4
allele num: 121196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1834+22G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.555+22G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.296+52G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1296C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.411+22G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3412C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.336+22G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.630+22G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.555+22G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.335+22G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.451+22G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1296C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.437+22G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.555+22G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.281+52G>A
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-43917448-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917448
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917448
    reference: chr 1
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.437+21C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.555+21C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.335+21C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.296+51C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1834+21C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1297G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.336+21C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.411+21C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.555+21C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.555+21C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1297G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.281+51C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.630+21C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3413G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.451+21C>T
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS

1-43917450-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917450
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917450
    reference: chr 1
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.630+19T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1834+19T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1299A>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.555+19T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.281+49T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.451+19T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1299A>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.296+49T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.555+19T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.336+19T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.555+19T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.411+19T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3415A>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.437+19T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.335+19T>C
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-43917451-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917451
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917451
    reference: chr 1
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.335+18C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.555+18C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1300G>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1834+18C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.555+18C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.555+18C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1300G>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.437+18C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.411+18C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.296+48C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.336+18C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.281+48C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3416G>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.630+18C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.451+18C>A
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22960
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

1-43917454-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917454
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917454
    reference: chr 1
allele count: 2
allele frequency: 1.650491846570278e-5
allele num: 121176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.336+15G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.335+15G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.296+45G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.555+15G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.555+15G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1303C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.630+15G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.451+15G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1303C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.281+45G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1834+15G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.437+15G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3419C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.411+15G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.555+15G>A
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

1-43917456-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917456
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917456
    reference: chr 1
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.437+13G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.555+13G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.630+13G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.555+13G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.411+13G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.281+43G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1305C>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3421C>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.336+13G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1305C>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.335+13G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1834+13G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.555+13G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.296+43G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.451+13G>C
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22835
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

1-43917457-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917457
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917457
    reference: chr 1
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.281+42G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.555+12G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3422C>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.296+42G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.451+12G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1306C>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1306C>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.630+12G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1834+12G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.411+12G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.555+12G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.437+12G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.336+12G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.335+12G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.555+12G>C
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

1-43917466-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917466
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917467
    reference: chr 1
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.335+2dupT
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.630+2dupT
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.437+2dupT
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.555+2dupT
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1316dupA
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1834+2dupT
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.451+2dupT
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.336+2dupT
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.555+2dupT
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.296+32dupT
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1316dupA
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.555+2dupT
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.411+2dupT
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.281+32dupT
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3432dupA
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13011
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.555+2dupT
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/1-43917469-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917469
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917469
    reference: chr 1
allele count: 209
allele frequency: 1.725988933850855e-3
allele num: 121090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.411G>T
  hgvsp: ENSP00000361503.1:p.Met137Ile
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1318C>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.555G>T
  hgvsp: ENSP00000361502.4:p.Met185Ile
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3434C>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.630G>T
  hgvsp: ENSP00000361511.1:p.Met210Ile
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.451G>T
  hgvsp: ENSP00000361510.1:p.Met151Ile
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.335G>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.437G>T
  hgvsp: ENSP00000361507.3:p.Met146Ile
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.555G>T
  hgvsp: ENSP00000361509.1:p.Met185Ile
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.336G>T
  hgvsp: ENSP00000461969.1:p.Met112Ile
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1834G>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.555G>T
  hgvsp: ENSP00000428399.1:p.Met185Ile
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.281+30G>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.296+30G>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1318C>A
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12968
  bin: 3.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Met185Ile
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

1-43917471-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917471
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917471
    reference: chr 1
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.296+28A>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.281+28A>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.435A>G
  hgvsp: ENSP00000361507.3:p.Met146Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1832A>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1320T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.409A>G
  hgvsp: ENSP00000361503.1:p.Met137Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.553A>G
  hgvsp: ENSP00000428399.1:p.Met185Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.553A>G
  hgvsp: ENSP00000361502.4:p.Met185Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.334A>G
  hgvsp: ENSP00000461969.1:p.Met112Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.333A>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.553A>G
  hgvsp: ENSP00000361509.1:p.Met185Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.628A>G
  hgvsp: ENSP00000361511.1:p.Met210Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1320T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3436T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.449A>G
  hgvsp: ENSP00000361510.1:p.Met151Val
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9091
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met185Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-43917476-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917476
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917476
    reference: chr 1
allele count: 5
allele frequency: 4.129637583005715e-5
allele num: 121076
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.548T>C
  hgvsp: ENSP00000428399.1:p.Leu183Ser
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.444T>C
  hgvsp: ENSP00000361510.1:p.Leu149Ser
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3441A>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.329T>C
  hgvsp: ENSP00000461969.1:p.Leu110Ser
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.548T>C
  hgvsp: ENSP00000361509.1:p.Leu183Ser
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.623T>C
  hgvsp: ENSP00000361511.1:p.Leu208Ser
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.430T>C
  hgvsp: ENSP00000361507.3:p.Leu144Ser
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.328T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1827T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.404T>C
  hgvsp: ENSP00000361503.1:p.Leu135Ser
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1325A>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.281+23T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1325A>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.548T>C
  hgvsp: ENSP00000361502.4:p.Leu183Ser
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.296+23T>C
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12800
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9168
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu183Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-43917484-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917484
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917484
    reference: chr 1
allele count: 6
allele frequency: 4.957694341618191e-5
allele num: 121024
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.540C>T
  hgvsp: ENST00000372425.4:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.436C>T
  hgvsp: ENST00000372433.1:c.436C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.540C>T
  hgvsp: ENST00000486909.1:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.396C>T
  hgvsp: ENST00000372426.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.615C>T
  hgvsp: ENST00000372434.1:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.422C>T
  hgvsp: ENST00000372430.3:c.422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1333G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1333G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.321C>T
  hgvsp: ENST00000583037.1:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.540C>T
  hgvsp: ENST00000372432.1:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1819C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.281+15C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.296+15C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3449G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.320C>T
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12579
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn180Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

1-43917492-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917492
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917492
    reference: chr 1
allele count: 2
allele frequency: 1.653083827880912e-5
allele num: 120986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.428A>G
  hgvsp: ENSP00000361510.1:p.Arg144Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.532A>G
  hgvsp: ENSP00000361509.1:p.Arg178Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1341T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.532A>G
  hgvsp: ENSP00000361502.4:p.Arg178Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1811A>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.388A>G
  hgvsp: ENSP00000361503.1:p.Arg130Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.296+7A>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1341T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.313A>G
  hgvsp: ENSP00000461969.1:p.Arg105Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.532A>G
  hgvsp: ENSP00000428399.1:p.Arg178Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3457T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.414A>G
  hgvsp: ENSP00000361507.3:p.Arg139Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.281+7A>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.607A>G
  hgvsp: ENSP00000361511.1:p.Arg203Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.312A>G
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg178Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

1-43917504-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917504
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917504
    reference: chr 1
allele count: 4
allele frequency: 3.310052629836815e-5
allele num: 120844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.520C>T
  hgvsp: ENSP00000361509.1:p.Gln174Ter
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.376C>T
  hgvsp: ENSP00000361503.1:p.Gln126Ter
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1353G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.520C>T
  hgvsp: ENSP00000361502.4:p.Gln174Ter
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3469G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1799C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.520C>T
  hgvsp: ENSP00000428399.1:p.Gln174Ter
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.291C>T
  hgvsp: ENSP00000428501.1:p.Gln98Ter
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.276C>T
  hgvsp: ENSP00000428803.1:p.Gln93Ter
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1353G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.300C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.402C>T
  hgvsp: ENSP00000361507.3:p.Gln135Ter
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.416C>T
  hgvsp: ENSP00000361510.1:p.Gln140Ter
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.301C>T
  hgvsp: ENSP00000461969.1:p.Gln101Ter
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.595C>T
  hgvsp: ENSP00000361511.1:p.Gln199Ter
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln174Ter
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

1-43917509-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917509
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917509
    reference: chr 1
allele count: 2
allele frequency: 1.655546909921693e-5
allele num: 120806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.515T>A
  hgvsp: ENSP00000428399.1:p.Ile172Asn
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.397T>A
  hgvsp: ENSP00000361507.3:p.Ile133Asn
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.286T>A
  hgvsp: ENSP00000428501.1:p.Ile96Asn
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.296T>A
  hgvsp: ENSP00000461969.1:p.Ile99Asn
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.515T>A
  hgvsp: ENSP00000361502.4:p.Ile172Asn
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1794T>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3474A>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1358A>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.271T>A
  hgvsp: ENSP00000428803.1:p.Ile91Asn
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.515T>A
  hgvsp: ENSP00000361509.1:p.Ile172Asn
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.590T>A
  hgvsp: ENSP00000361511.1:p.Ile197Asn
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.411T>A
  hgvsp: ENSP00000361510.1:p.Ile138Asn
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.371T>A
  hgvsp: ENSP00000361503.1:p.Ile124Asn
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.295T>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1358A>T
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile172Asn
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-43917515-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917515
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917515
    reference: chr 1
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.391C>G
  hgvsp: ENSP00000361507.3:p.Ala131Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.509C>G
  hgvsp: ENSP00000361502.4:p.Ala170Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.265C>G
  hgvsp: ENSP00000428803.1:p.Ala89Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3480G>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.405C>G
  hgvsp: ENSP00000361510.1:p.Ala136Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1364G>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.509C>G
  hgvsp: ENSP00000361509.1:p.Ala170Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1364G>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.365C>G
  hgvsp: ENSP00000361503.1:p.Ala122Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1788C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.584C>G
  hgvsp: ENSP00000361511.1:p.Ala195Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.280C>G
  hgvsp: ENSP00000428501.1:p.Ala94Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.509C>G
  hgvsp: ENSP00000428399.1:p.Ala170Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.289C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.290C>G
  hgvsp: ENSP00000461969.1:p.Ala97Gly
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala170Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-43917516-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917516
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917516
    reference: chr 1
allele count: 5
allele frequency: 4.138113682259079e-5
allele num: 120828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.390G>A
  hgvsp: ENSP00000361507.3:p.Ala131Thr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.404G>A
  hgvsp: ENSP00000361510.1:p.Ala136Thr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1365C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.279G>A
  hgvsp: ENSP00000428501.1:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.289G>A
  hgvsp: ENSP00000461969.1:p.Ala97Thr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.508G>A
  hgvsp: ENSP00000361509.1:p.Ala170Thr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.508G>A
  hgvsp: ENSP00000428399.1:p.Ala170Thr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.264G>A
  hgvsp: ENSP00000428803.1:p.Ala89Thr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.364G>A
  hgvsp: ENSP00000361503.1:p.Ala122Thr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.508G>A
  hgvsp: ENSP00000361502.4:p.Ala170Thr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.288G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3481C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1365C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.583G>A
  hgvsp: ENSP00000361511.1:p.Ala195Thr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1787G>A
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala170Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD

1-43917517-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917517
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917517
    reference: chr 1
allele count: 8
allele frequency: 6.622406913792818e-5
allele num: 120802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.403G>A
  hgvsp: ENST00000372433.1:c.403G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1786G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.263G>A
  hgvsp: ENST00000470662.1:c.263G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.287G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.389G>A
  hgvsp: ENST00000372430.3:c.389G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.507G>A
  hgvsp: ENST00000486909.1:c.507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.582G>A
  hgvsp: ENST00000372434.1:c.582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3482C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.363G>A
  hgvsp: ENST00000372426.1:c.363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1366C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.507G>A
  hgvsp: ENST00000372432.1:c.507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.507G>A
  hgvsp: ENST00000372425.4:c.507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1366C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.278G>A
  hgvsp: ENST00000487366.1:c.278G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.288G>A
  hgvsp: ENST00000583037.1:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.507G>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ

1-43917518-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917518
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917518
    reference: chr 1
allele count: 5
allele frequency: 4.139346976620968e-5
allele num: 120792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.581C>T
  hgvsp: ENSP00000361511.1:p.Ala194Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.506C>T
  hgvsp: ENSP00000428399.1:p.Ala169Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.362C>T
  hgvsp: ENSP00000361503.1:p.Ala121Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.286C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1367G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.262C>T
  hgvsp: ENSP00000428803.1:p.Ala88Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.506C>T
  hgvsp: ENSP00000361509.1:p.Ala169Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3483G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.277C>T
  hgvsp: ENSP00000428501.1:p.Ala93Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.506C>T
  hgvsp: ENSP00000361502.4:p.Ala169Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1785C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1367G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.287C>T
  hgvsp: ENSP00000461969.1:p.Ala96Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.402C>T
  hgvsp: ENSP00000361510.1:p.Ala135Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.388C>T
  hgvsp: ENSP00000361507.3:p.Ala130Val
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala169Val
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS

1-43917519-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917519
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917517
    reference: chr 1
allele count: 2
allele frequency: 1.654889370645572e-5
allele num: 120854
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3486_3487delGT
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.362-3_362-2delCA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.581-3_581-2delCA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.506-3_506-2delCA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1785-3_1785-2delCA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.506-3_506-2delCA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.286-3_286-2delCA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1370_*1371delGT
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1370_*1371delGT
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.287-3_287-2delCA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.388-3_388-2delCA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.506-3_506-2delCA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.402-3_402-2delCA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.262-3_262-2delCA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.277-3_277-2delCA
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11288
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.506-3_506-2delCA
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: CTG
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-43917521-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917521
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917522
    reference: chr 1
allele count: 13
allele frequency: 1.075695892496607e-4
allele num: 120852
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.581-4dupA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.277-4dupA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.388-4dupA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.402-4dupA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.506-4dupA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1371dupT
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1371dupT
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.362-4dupA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.286-4dupA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.506-4dupA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3487dupT
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.506-4dupA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.262-4dupA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.287-4dupA
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1785-4dupA
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11806
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5722
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.506-4dupA
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-43917523-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917523
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917523
    reference: chr 1
allele count: 1
allele frequency: 8.274446853227862e-6
allele num: 120854
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.362-5T>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.506-5T>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.287-5T>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.581-5T>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1785-5T>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.506-5T>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.506-5T>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.388-5T>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.402-5T>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.277-5T>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.286-5T>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.262-5T>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3488A>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1372A>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1372A>C
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11774
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.506-5T>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

1-43917533-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917533
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917533
    reference: chr 1
allele count: 1
allele frequency: 8.275542461808372e-6
allele num: 120838
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.581-15T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1382A>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.277-15T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3498A>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.506-15T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1785-15T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.388-15T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.506-15T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.262-15T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.362-15T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.402-15T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1382A>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.286-15T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.287-15T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.506-15T>C
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-43917537-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917537
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917538
    reference: chr 1
allele count: 2
allele frequency: 1.65508109897385e-5
allele num: 120840
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.402-20dupC
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.388-20dupC
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.506-20dupC
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1390dupG
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.506-20dupC
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.287-20dupC
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.277-20dupC
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.581-20dupC
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.286-20dupC
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.262-20dupC
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.506-20dupC
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1390dupG
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.362-20dupC
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3506dupG
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1785-20dupC
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

1-43917539-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917539
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917539
    reference: chr 1
allele count: 4
allele frequency: 3.310436149962758e-5
allele num: 120830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.277-21C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.506-21C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.402-21C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.262-21C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.388-21C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.506-21C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3504G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.286-21C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.506-21C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.287-21C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1388G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.362-21C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.581-21C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1388G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1785-21C>T
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20008
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

1-43917540-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917540
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917540
    reference: chr 1
allele count: 1
allele frequency: 8.275131574592036e-6
allele num: 120844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.402-22C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1389G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.277-22C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1389G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3505G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.506-22C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.388-22C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.581-22C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.506-22C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.286-22C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.262-22C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.287-22C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.506-22C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1785-22C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.362-22C>T
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-43917541-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917541
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917541
    reference: chr 1
allele count: 1
allele frequency: 8.274036074797286e-6
allele num: 120860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.581-23C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.262-23C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.362-23C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.277-23C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1390G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.506-23C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1390G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.287-23C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.286-23C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.506-23C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3506G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.506-23C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.402-23C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1785-23C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.388-23C>T
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

1-43917544-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917544
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917544
    reference: chr 1
allele count: 2
allele frequency: 1.655327672112695e-5
allele num: 120822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.506-26G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.262-26G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.388-26G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.286-26G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.287-26G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1393C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.402-26G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3509C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.506-26G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1393C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.277-26G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1785-26G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.506-26G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.362-26G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.581-26G>A
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11956
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

1-43917545-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917545
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917545
    reference: chr 1
allele count: 4
allele frequency: 3.310436149962758e-5
allele num: 120830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.362-27C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.506-27C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.388-27C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.402-27C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.287-27C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1394G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3510G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.506-27C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1394G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.277-27C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.581-27C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.262-27C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.286-27C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.506-27C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1785-27C>T
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12062
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

1-43917557-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917557
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917557
    reference: chr 1
allele count: 1
allele frequency: 8.276364358664525e-6
allele num: 120826
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3522A>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.581-39T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.287-39T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1406A>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1785-39T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.262-39T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.388-39T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.286-39T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.506-39T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1406A>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.277-39T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.402-39T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.506-39T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.362-39T>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.506-39T>C
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

1-43917579-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917579
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917579
    reference: chr 1
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.505+27C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.401+27C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.505+27C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3544G>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.505+27C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.387+27C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1428G>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.361+27C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1784+27C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1428G>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.285+27C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.286+27C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.261+27C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.580+27C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.276+27C>G
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

1-43917589-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917589
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917589
    reference: chr 1
allele count: 5
allele frequency: 4.148620168931814e-5
allele num: 120522
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.286+17G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1438C>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.361+17G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1784+17G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.261+17G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3554C>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1438C>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.401+17G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.505+17G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.387+17G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.276+17G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.505+17G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.505+17G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.285+17G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.580+17G>C
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP

1-43917591-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917591
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917591
    reference: chr 1
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1784+15C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.276+15C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1440G>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.505+15C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.401+15C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.505+15C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.580+15C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.387+15C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.286+15C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3556G>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1440G>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.505+15C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.361+15C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.285+15C>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.261+15C>G
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12312
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

1-43917598-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917598
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917598
    reference: chr 1
allele count: 1
allele frequency: 8.304268393954492e-6
allele num: 120420
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.387+8C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1447G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.401+8C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.505+8C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.505+8C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3563G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1784+8C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.286+8C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.505+8C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.361+8C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.276+8C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1447G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.285+8C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.580+8C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.261+8C>T
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.505+8C>T
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

1-43917600-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917600
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917600
    reference: chr 1
allele count: 4
allele frequency: 3.323031934336889e-5
allele num: 120372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.505+6A>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.276+6A>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.505+6A>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.261+6A>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1449T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.505+6A>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.361+6A>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.286+6A>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3565T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1449T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.401+6A>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.285+6A>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.580+6A>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1784+6A>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.387+6A>G
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20373
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.505+6A>G
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-43917601-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917601
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917601
    reference: chr 1
allele count: 1
allele frequency: 8.311308366163002e-6
allele num: 120318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.401+5G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.505+5G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.276+5G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.387+5G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.286+5G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1784+5G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.361+5G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1450C>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3566C>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.505+5G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.580+5G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.261+5G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.505+5G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1450C>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.285+5G>C
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.505+5G>C
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ

1-43917601-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917601
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917601
    reference: chr 1
allele count: 718
allele frequency: 5.967519406905035e-3
allele num: 120318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3566C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.261+5G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.387+5G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.276+5G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.505+5G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.401+5G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.505+5G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.361+5G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.285+5G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.505+5G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.580+5G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1784+5G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1450C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.286+5G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1450C>T
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12206
  bin: 3.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
hgvs: c.505+5G>A
num of homozygotes: 7
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

1-43917602-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917602
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917602
    reference: chr 1
allele count: 5
allele frequency: 4.157589263441486e-5
allele num: 120262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.285+4C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.387+4C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1451G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.286+4C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.276+4C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.580+4C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.261+4C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.505+4C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1451G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.401+4C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.505+4C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.361+4C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1784+4C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3567G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.505+4C>T
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.505+4C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

1-43917613-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917613
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917613
    reference: chr 1
allele count: 1
allele frequency: 8.326533331112925e-6
allele num: 120098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3578G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.573C>T
  hgvsp: ENST00000372434.1:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.498C>T
  hgvsp: ENST00000486909.1:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.498C>T
  hgvsp: ENST00000372425.4:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.394C>T
  hgvsp: ENST00000372433.1:c.394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.498C>T
  hgvsp: ENST00000372432.1:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.269C>T
  hgvsp: ENST00000487366.1:c.269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.380C>T
  hgvsp: ENST00000372430.3:c.380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1462G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1462G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.254C>T
  hgvsp: ENST00000470662.1:c.254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.279C>T
  hgvsp: ENST00000583037.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1777C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.354C>T
  hgvsp: ENST00000372426.1:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.278C>T
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro166Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

1-43917616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917616
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917616
    reference: chr 1
allele count: 6
allele frequency: 4.999666688887407e-5
allele num: 120008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.495G>A
  hgvsp: ENST00000486909.1:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1774G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.391G>A
  hgvsp: ENST00000372433.1:c.391G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1465C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.570G>A
  hgvsp: ENST00000372434.1:c.570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.266G>A
  hgvsp: ENST00000487366.1:c.266G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1465C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.276G>A
  hgvsp: ENST00000583037.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.251G>A
  hgvsp: ENST00000470662.1:c.251G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.275G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.495G>A
  hgvsp: ENST00000372425.4:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3581C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.377G>A
  hgvsp: ENST00000372430.3:c.377G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.495G>A
  hgvsp: ENST00000372432.1:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.351G>A
  hgvsp: ENST00000372426.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr165Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-43917617-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917617
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917617
    reference: chr 1
allele count: 9
allele frequency: 7.497001199520192e-5
allele num: 120048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.494C>T
  hgvsp: ENSP00000428399.1:p.Thr165Met
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1466G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.274C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.494C>T
  hgvsp: ENSP00000361502.4:p.Thr165Met
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.390C>T
  hgvsp: ENSP00000361510.1:p.Thr131Met
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.350C>T
  hgvsp: ENSP00000361503.1:p.Thr117Met
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.250C>T
  hgvsp: ENSP00000428803.1:p.Thr84Met
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.265C>T
  hgvsp: ENSP00000428501.1:p.Thr89Met
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.569C>T
  hgvsp: ENSP00000361511.1:p.Thr190Met
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3582G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.494C>T
  hgvsp: ENSP00000361509.1:p.Thr165Met
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.376C>T
  hgvsp: ENSP00000361507.3:p.Thr126Met
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.275C>T
  hgvsp: ENSP00000461969.1:p.Thr92Met
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1773C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1466G>A
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr165Met
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/1-43917621-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917621
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917621
    reference: chr 1
allele count: 1
allele frequency: 8.335139280177371e-6
allele num: 119974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.490G>T
  hgvsp: ENSP00000428399.1:p.Asp164Tyr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1470C>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.386G>T
  hgvsp: ENSP00000361510.1:p.Asp130Tyr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.490G>T
  hgvsp: ENSP00000361502.4:p.Asp164Tyr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.346G>T
  hgvsp: ENSP00000361503.1:p.Asp116Tyr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.565G>T
  hgvsp: ENSP00000361511.1:p.Asp189Tyr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.490G>T
  hgvsp: ENSP00000361509.1:p.Asp164Tyr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.271G>T
  hgvsp: ENSP00000461969.1:p.Asp91Tyr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3586C>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.261G>T
  hgvsp: ENSP00000428501.1:p.Asp88Tyr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.246G>T
  hgvsp: ENSP00000428803.1:p.Asp83Tyr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.372G>T
  hgvsp: ENSP00000361507.3:p.Asp125Tyr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1769G>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.270G>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1470C>A
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp164Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

1-43917621-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917621
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917621
    reference: chr 1
allele count: 1
allele frequency: 8.335139280177371e-6
allele num: 119974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.372G>A
  hgvsp: ENSP00000361507.3:p.Asp125Asn
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.490G>A
  hgvsp: ENSP00000361502.4:p.Asp164Asn
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.346G>A
  hgvsp: ENSP00000361503.1:p.Asp116Asn
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.565G>A
  hgvsp: ENSP00000361511.1:p.Asp189Asn
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1470C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.490G>A
  hgvsp: ENSP00000361509.1:p.Asp164Asn
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.261G>A
  hgvsp: ENSP00000428501.1:p.Asp88Asn
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.271G>A
  hgvsp: ENSP00000461969.1:p.Asp91Asn
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.386G>A
  hgvsp: ENSP00000361510.1:p.Asp130Asn
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.246G>A
  hgvsp: ENSP00000428803.1:p.Asp83Asn
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.490G>A
  hgvsp: ENSP00000428399.1:p.Asp164Asn
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.270G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1769G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1470C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3586C>T
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp164Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

1-43917625-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917625
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917625
    reference: chr 1
allele count: 3
allele frequency: 2.50141746989961e-5
allele num: 119932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.342C>T
  hgvsp: ENST00000372426.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.242C>T
  hgvsp: ENST00000470662.1:c.242C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.368C>T
  hgvsp: ENST00000372430.3:c.368C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.561C>T
  hgvsp: ENST00000372434.1:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.257C>T
  hgvsp: ENST00000487366.1:c.257C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.486C>T
  hgvsp: ENST00000372432.1:c.486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.266C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.486C>T
  hgvsp: ENST00000372425.4:c.486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.382C>T
  hgvsp: ENST00000372433.1:c.382C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1474G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.267C>T
  hgvsp: ENST00000583037.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1765C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.486C>T
  hgvsp: ENST00000486909.1:c.486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3590G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1474G>A
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe162Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/1-43917627-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917627
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917627
    reference: chr 1
allele count: 1
allele frequency: 8.339309838717748e-6
allele num: 119914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.484T>G
  hgvsp: ENSP00000428399.1:p.Phe162Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.340T>G
  hgvsp: ENSP00000361503.1:p.Phe114Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.380T>G
  hgvsp: ENSP00000361510.1:p.Phe128Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.255T>G
  hgvsp: ENSP00000428501.1:p.Phe86Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1763T>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1476A>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.264T>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.265T>G
  hgvsp: ENSP00000461969.1:p.Phe89Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1476A>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.484T>G
  hgvsp: ENSP00000361502.4:p.Phe162Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.366T>G
  hgvsp: ENSP00000361507.3:p.Phe123Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.484T>G
  hgvsp: ENSP00000361509.1:p.Phe162Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.240T>G
  hgvsp: ENSP00000428803.1:p.Phe81Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.559T>G
  hgvsp: ENSP00000361511.1:p.Phe187Val
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3592A>C
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe162Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-43917628-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917628
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917628
    reference: chr 1
allele count: 1
allele frequency: 8.341675008341675e-6
allele num: 119880
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1477G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.558C>T
  hgvsp: ENST00000372434.1:c.558C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.263C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1477G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.239C>T
  hgvsp: ENST00000470662.1:c.239C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.339C>T
  hgvsp: ENST00000372426.1:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.483C>T
  hgvsp: ENST00000486909.1:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.365C>T
  hgvsp: ENST00000372430.3:c.365C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.483C>T
  hgvsp: ENST00000372432.1:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.254C>T
  hgvsp: ENST00000487366.1:c.254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.379C>T
  hgvsp: ENST00000372433.1:c.379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.483C>T
  hgvsp: ENST00000372425.4:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1762C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.264C>T
  hgvsp: ENST00000583037.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3593G>A
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11578
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr161Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

1-43917636-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917636
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917636
    reference: chr 1
allele count: 1
allele frequency: 8.352125615969264e-6
allele num: 119730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3601G>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.246C>A
  hgvsp: ENSP00000428501.1:p.Pro83Thr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.371C>A
  hgvsp: ENSP00000361510.1:p.Pro125Thr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.550C>A
  hgvsp: ENSP00000361511.1:p.Pro184Thr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.331C>A
  hgvsp: ENSP00000361503.1:p.Pro111Thr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.475C>A
  hgvsp: ENSP00000428399.1:p.Pro159Thr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.357C>A
  hgvsp: ENSP00000361507.3:p.Pro120Thr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.255C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.256C>A
  hgvsp: ENSP00000461969.1:p.Pro86Thr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.231C>A
  hgvsp: ENSP00000428803.1:p.Pro78Thr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1485G>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.475C>A
  hgvsp: ENSP00000361509.1:p.Pro159Thr
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1754C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1485G>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.475C>A
  hgvsp: ENSP00000361502.4:p.Pro159Thr
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro159Thr
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

1-43917637-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917637
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917637
    reference: chr 1
allele count: 39366
allele frequency: 3.291031300160513e-1
allele num: 119616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.474C>T
  hgvsp: ENST00000486909.1:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.549C>T
  hgvsp: ENST00000372434.1:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.370C>T
  hgvsp: ENST00000372433.1:c.370C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1753C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.474C>T
  hgvsp: ENST00000372432.1:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.255C>T
  hgvsp: ENST00000583037.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.230C>T
  hgvsp: ENST00000470662.1:c.230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.245C>T
  hgvsp: ENST00000487366.1:c.245C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.474C>T
  hgvsp: ENST00000372425.4:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.330C>T
  hgvsp: ENST00000372426.1:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.254C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3602G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1486G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.356C>T
  hgvsp: ENST00000372430.3:c.356C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1486G>A
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 3.75e1
  variant carriers: 1171
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 8.25e1
  variant carriers: 1658
genotype depth: GenotypeDepth
  all individuals: 7566
  bin: 2.25e1
  variant carriers: 847
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 7.25e1
  variant carriers: 2173
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 5.75e1
  variant carriers: 2511
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 8.75e1
  variant carriers: 1472
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 1.25e1
  variant carriers: 358
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 4.25e1
  variant carriers: 1565
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.5e0
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.25e1
  variant carriers: 1130
genotype quality: GenotypeQuality
hgvs: p.Asp158Asp
num of homozygotes: 7313
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-43917647-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917647
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917647
    reference: chr 1
allele count: 1
allele frequency: 8.437394532568342e-6
allele num: 118520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.245G>A
  hgvsp: ENSP00000461969.1:p.Arg82His
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.244G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.539G>A
  hgvsp: ENSP00000361511.1:p.Arg180His
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.320G>A
  hgvsp: ENSP00000361503.1:p.Arg107His
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.464G>A
  hgvsp: ENSP00000361502.4:p.Arg155His
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.235G>A
  hgvsp: ENSP00000428501.1:p.Arg79His
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1496C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.346G>A
  hgvsp: ENSP00000361507.3:p.Arg116His
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.464G>A
  hgvsp: ENSP00000361509.1:p.Arg155His
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1743G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3612C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.220G>A
  hgvsp: ENSP00000428803.1:p.Arg74His
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.360G>A
  hgvsp: ENSP00000361510.1:p.Arg121His
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.464G>A
  hgvsp: ENSP00000428399.1:p.Arg155His
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1496C>T
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg155His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

1-43917648-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917648
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917648
    reference: chr 1
allele count: 4
allele frequency: 3.379348799486339e-5
allele num: 118366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.538C>T
  hgvsp: ENSP00000361511.1:p.Arg180Cys
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.234C>T
  hgvsp: ENSP00000428501.1:p.Arg79Cys
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3613G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.359C>T
  hgvsp: ENSP00000361510.1:p.Arg121Cys
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.463C>T
  hgvsp: ENSP00000361502.4:p.Arg155Cys
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.463C>T
  hgvsp: ENSP00000361509.1:p.Arg155Cys
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.319C>T
  hgvsp: ENSP00000361503.1:p.Arg107Cys
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.463C>T
  hgvsp: ENSP00000428399.1:p.Arg155Cys
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1497G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.219C>T
  hgvsp: ENSP00000428803.1:p.Arg74Cys
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.345C>T
  hgvsp: ENSP00000361507.3:p.Arg116Cys
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.244C>T
  hgvsp: ENSP00000461969.1:p.Arg82Cys
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1497G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1742C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.243C>T
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg155Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS

1-43917652-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917652
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917652
    reference: chr 1
allele count: 3
allele frequency: 2.535411243703729e-5
allele num: 118324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.459C>A
  hgvsp: ENSP00000428399.1:p.Asn153Lys
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3617G>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1501G>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.355C>A
  hgvsp: ENSP00000361510.1:p.Asn119Lys
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.534C>A
  hgvsp: ENSP00000361511.1:p.Asn178Lys
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.341C>A
  hgvsp: ENSP00000361507.3:p.Asn114Lys
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.230C>A
  hgvsp: ENSP00000428501.1:p.Asn77Lys
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1738C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.240C>A
  hgvsp: ENSP00000461969.1:p.Asn80Lys
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.459C>A
  hgvsp: ENSP00000361502.4:p.Asn153Lys
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.459C>A
  hgvsp: ENSP00000361509.1:p.Asn153Lys
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.215C>A
  hgvsp: ENSP00000428803.1:p.Asn72Lys
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.239C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1501G>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.315C>A
  hgvsp: ENSP00000361503.1:p.Asn105Lys
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn153Lys
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-43917652-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917652
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917652
    reference: chr 1
allele count: 2
allele frequency: 1.690274162469152e-5
allele num: 118324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.230C>T
  hgvsp: ENST00000487366.1:c.230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3617G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.459C>T
  hgvsp: ENST00000486909.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1501G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.459C>T
  hgvsp: ENST00000372425.4:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.239C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.534C>T
  hgvsp: ENST00000372434.1:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1501G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.355C>T
  hgvsp: ENST00000372433.1:c.355C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.459C>T
  hgvsp: ENST00000372432.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1738C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.341C>T
  hgvsp: ENST00000372430.3:c.341C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.215C>T
  hgvsp: ENST00000470662.1:c.215C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.315C>T
  hgvsp: ENST00000372426.1:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.240C>T
  hgvsp: ENST00000583037.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn153Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

1-43917672-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917672
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917672
    reference: chr 1
allele count: 2
allele frequency: 1.713502398903358e-5
allele num: 116720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.195G>A
  hgvsp: ENSP00000428803.1:p.Gly66Arg
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.439G>A
  hgvsp: ENSP00000361502.4:p.Gly147Arg
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.335G>A
  hgvsp: ENSP00000361510.1:p.Gly113Arg
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.321G>A
  hgvsp: ENSP00000361507.3:p.Gly108Arg
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.514G>A
  hgvsp: ENSP00000361511.1:p.Gly172Arg
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.439G>A
  hgvsp: ENSP00000361509.1:p.Gly147Arg
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.439G>A
  hgvsp: ENSP00000428399.1:p.Gly147Arg
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.219G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1521C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.210G>A
  hgvsp: ENSP00000428501.1:p.Gly71Arg
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.295G>A
  hgvsp: ENSP00000361503.1:p.Gly99Arg
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3637C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1718G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1521C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.220G>A
  hgvsp: ENSP00000461969.1:p.Gly74Arg
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly147Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-43917675-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917675
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917675
    reference: chr 1
allele count: 1
allele frequency: 8.590327291469806e-6
allele num: 116410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.292G>A
  hgvsp: ENSP00000361503.1:p.Val98Met
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.436G>A
  hgvsp: ENSP00000361502.4:p.Val146Met
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.192G>A
  hgvsp: ENSP00000428803.1:p.Val65Met
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.318G>A
  hgvsp: ENSP00000361507.3:p.Val107Met
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.216G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1524C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.511G>A
  hgvsp: ENSP00000361511.1:p.Val171Met
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.207G>A
  hgvsp: ENSP00000428501.1:p.Val70Met
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3640C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.436G>A
  hgvsp: ENSP00000428399.1:p.Val146Met
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.217G>A
  hgvsp: ENSP00000461969.1:p.Val73Met
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.436G>A
  hgvsp: ENSP00000361509.1:p.Val146Met
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.332G>A
  hgvsp: ENSP00000361510.1:p.Val112Met
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1715G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1524C>T
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25843
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val146Met
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

1-43917676-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917676
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917676
    reference: chr 1
allele count: 1
allele frequency: 8.591803419537761e-6
allele num: 116390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.206C>T
  hgvsp: ENST00000487366.1:c.206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1525G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1714C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.331C>T
  hgvsp: ENST00000372433.1:c.331C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.216C>T
  hgvsp: ENST00000583037.1:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.435C>T
  hgvsp: ENST00000486909.1:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.317C>T
  hgvsp: ENST00000372430.3:c.317C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.435C>T
  hgvsp: ENST00000372432.1:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.435C>T
  hgvsp: ENST00000372425.4:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1525G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.191C>T
  hgvsp: ENST00000470662.1:c.191C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.215C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.291C>T
  hgvsp: ENST00000372426.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.510C>T
  hgvsp: ENST00000372434.1:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3641G>A
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu145Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

1-43917678-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917678
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917678
    reference: chr 1
allele count: 3
allele frequency: 2.582955934771753e-5
allele num: 116146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.433C>T
  hgvsp: ENSP00000428399.1:p.Leu145Phe
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.508C>T
  hgvsp: ENSP00000361511.1:p.Leu170Phe
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.315C>T
  hgvsp: ENSP00000361507.3:p.Leu106Phe
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3643G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.329C>T
  hgvsp: ENSP00000361510.1:p.Leu111Phe
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.214C>T
  hgvsp: ENSP00000461969.1:p.Leu72Phe
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.189C>T
  hgvsp: ENSP00000428803.1:p.Leu64Phe
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.433C>T
  hgvsp: ENSP00000361509.1:p.Leu145Phe
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1527G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.204C>T
  hgvsp: ENSP00000428501.1:p.Leu69Phe
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.433C>T
  hgvsp: ENSP00000361502.4:p.Leu145Phe
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1527G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.289C>T
  hgvsp: ENSP00000361503.1:p.Leu97Phe
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.213C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1712C>T
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu145Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-43917683-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917683
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917683
    reference: chr 1
allele count: 1
allele frequency: 8.639756704451203e-6
allele num: 115744
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1532T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.428A>G
  hgvsp: ENSP00000361502.4:p.Glu143Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1532T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.284A>G
  hgvsp: ENSP00000361503.1:p.Glu95Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.310A>G
  hgvsp: ENSP00000361507.3:p.Glu104Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.209A>G
  hgvsp: ENSP00000461969.1:p.Glu70Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.324A>G
  hgvsp: ENSP00000361510.1:p.Glu109Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.503A>G
  hgvsp: ENSP00000361511.1:p.Glu168Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1707A>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.208A>G
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.428A>G
  hgvsp: ENSP00000428399.1:p.Glu143Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.428A>G
  hgvsp: ENSP00000361509.1:p.Glu143Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.199A>G
  hgvsp: ENSP00000428501.1:p.Glu67Gly
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3648T>C
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.184A>G
  hgvsp: ENSP00000428803.1:p.Glu62Gly
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu143Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

1-43917689-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917689
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917689
    reference: chr 1
allele count: 1
allele frequency: 8.70716076901644e-6
allele num: 114848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.198-5G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.323-5G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1706-5G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3654C>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.427-5G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1538C>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.208-5G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.202G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.427-5G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.283-5G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.309-5G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.427-5G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.502-5G>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1538C>G
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.183-5G>C
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.427-5G>C
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

1-43917693-ATGTCGGGTGC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917693
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917683
    reference: chr 1
allele count: 1
allele frequency: 8.741258741258741e-6
allele num: 114400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10858
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: ATGTCGGGTGC
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

1-43917697-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917697
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917697
    reference: chr 1
allele count: 9
allele frequency: 7.917656373713381e-5
allele num: 113670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.183-13G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1706-13G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.427-13G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.309-13G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1546C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.427-13G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.427-13G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.208-13G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.198-13G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3662C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.194G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.323-13G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.502-13G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.283-13G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1546C>T
  variant of: http://identifiers.org/hgnc/29040
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9226
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

1-43917698-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917698
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917698
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 113590
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.427-14C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.309-14C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1547G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1547G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3663G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.283-14C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.198-14C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.502-14C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.323-14C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.208-14C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.427-14C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1706-14C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.193C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.183-14C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.427-14C>T
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

1-43917700-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917700
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917700
    reference: chr 1
allele count: 7
allele frequency: 6.166857545590697e-5
allele num: 113510
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.427-16C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1549G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.323-16C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.427-16C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.191C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.283-16C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.208-16C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3665G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.198-16C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.427-16C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1549G>A
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.309-16C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.502-16C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.183-16C>T
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1706-16C>T
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10134
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9220
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

1-43917703-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917703
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917703
    reference: chr 1
allele count: 1
allele frequency: 8.852534480621802e-6
allele num: 112962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.323-19G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3668C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1552C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1706-19G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.188G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1552C>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.198-19G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.309-19G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.183-19G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.427-19G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.208-19G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.427-19G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.502-19G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.427-19G>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.283-19G>A
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

1-43917705-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917705
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917705
    reference: chr 1
allele count: 1
allele frequency: 8.868235753179262e-6
allele num: 112762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361509
  ensembl transcript: ENST00000372432
  gene symbol: HYI
  hgvsc: ENST00000372432.1:c.427-21C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000457168
  ensembl transcript: ENST00000562955
  gene symbol: SZT2
  hgvsc: ENST00000562955.1:c.*1554G>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361503
  ensembl transcript: ENST00000372426
  gene symbol: HYI
  hgvsc: ENST00000372426.1:c.283-21C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.198-21C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361502
  ensembl transcript: ENST00000372425
  gene symbol: HYI
  hgvsc: ENST00000372425.4:c.427-21C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198198
  ensembl transcript: ENST00000460536
  gene symbol: SZT2
  hgvsc: ENST00000460536.1:n.3670G>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361511
  ensembl transcript: ENST00000372434
  gene symbol: HYI
  hgvsc: ENST00000372434.1:c.502-21C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361507
  ensembl transcript: ENST00000372430
  gene symbol: HYI
  hgvsc: ENST00000372430.3:c.309-21C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000372427
  gene symbol: HYI
  hgvsc: ENST00000372427.1:n.1706-21C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000461969
  ensembl transcript: ENST00000583037
  gene symbol: HYI
  hgvsc: ENST00000583037.1:c.208-21C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000198198
  ensembl protein: ENSP00000361519
  ensembl transcript: ENST00000372442
  gene symbol: SZT2
  hgvsc: ENST00000372442.1:c.*1554G>T
  variant of: http://identifiers.org/hgnc/29040
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000361510
  ensembl transcript: ENST00000372433
  gene symbol: HYI
  hgvsc: ENST00000372433.1:c.323-21C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428803
  ensembl transcript: ENST00000470662
  gene symbol: HYI
  hgvsc: ENST00000470662.1:c.183-21C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428399
  ensembl transcript: ENST00000486909
  gene symbol: HYI
  hgvsc: ENST00000486909.1:c.427-21C>A
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.186C>A
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9494
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-43917706-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43917706
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 43917706
    reference: chr 1
allele count: 1
allele frequency: 8.879259824900996e-6
allele num: 112622
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178922
  ensembl transcript: ENST00000496142
  gene symbol: HYI
  hgvsc: ENST00000496142.1:n.185A>C
  variant of: http://identifiers.org/hgnc/26948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178922
  ensembl protein: ENSP00000428501
  ensembl transcript: ENST00000487366
  gene symbol: HYI
  hgvsc: ENST00000487366.1:c.198-22A>C
  variant of: http://identifiers.org/hgnc/26948
canonical: true
consequence: 3' UTR
filter: PASS
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 950
bin: 5.25e1
variant carriers: 5

GenotypeDepth
all individuals: 540
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1752
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3481
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6135
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 157
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 205
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7769
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 3085
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9089
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27180
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4054
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 176
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4486
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1725
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.950838860710105e-4
allele num: 66638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.272e1

DP
type: SiteQuality
SIO_000300: 1.962439e6

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.9e-1

GenotypeDepth
all individuals: 651
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 534
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3468
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1752
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 349
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13431
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 280
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1726
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27367
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4464
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9088
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7752
bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Other
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allele frequency: 1.103752759381898e-3
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

East Asian
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Other
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DP
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

South Asian
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allele count: 1
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allele num: 16494
num of homozygotes: 0

East Asian
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allele count: 0
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num of homozygotes: 0

Other
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BaseQRankSum
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SIO_000300: -3.042e0

VQSLOD
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FS
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SIO_000300: 8.85e-1

ReadPosRankSum
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DP
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QD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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SIO_000300: 5.969e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 3.002101471029721e-5
allele num: 66620
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Latino
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele count: 0
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num of homozygotes: 0

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

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

South Asian
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African
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East Asian
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allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.79e-1

QD
type: SiteQuality
SIO_000300: 5.88e0

DP
type: SiteQuality
SIO_000300: 1.946506e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.086e0

FS
type: SiteQuality
SIO_000300: 3.654e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeDepth
all individuals: 22481
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variant carriers: 25

GenotypeDepth
all individuals: 348
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variant carriers: 2

GenotypeDepth
all individuals: 139
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GenotypeDepth
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variant carriers: 29

GenotypeDepth
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variant carriers: 50

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 20

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 8

GenotypeDepth
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variant carriers: 5

GenotypeQuality
all individuals: 8811
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 209

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2976
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variant carriers: 0

GenotypeQuality
all individuals: 1683
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 12
allele frequency: 1.15718418514947e-3
allele num: 10370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

Latino
type: Population
allele count: 66
allele frequency: 5.72122052704577e-3
allele num: 11536
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.530973451327434e-3
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 126
allele frequency: 1.892630756751885e-3
allele num: 66574
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

DP
type: SiteQuality
SIO_000300: 1.945695e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

QD
type: SiteQuality
SIO_000300: 1.254e1

GenotypeDepth
all individuals: 93
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 269
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variant carriers: 0

GenotypeQuality
all individuals: 27141
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.941472e6

FS
type: SiteQuality
SIO_000300: 2.818e0

QD
type: SiteQuality
SIO_000300: 1.121e1

VQSLOD
type: SiteQuality
SIO_000300: 9.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e0

GenotypeDepth
all individuals: 7
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variant carriers: 0

GenotypeDepth
all individuals: 1722
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variant carriers: 0

GenotypeDepth
all individuals: 22299
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variant carriers: 0

GenotypeDepth
all individuals: 166
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variant carriers: 1

GenotypeDepth
all individuals: 152
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GenotypeDepth
all individuals: 200
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GenotypeDepth
all individuals: 347
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GenotypeDepth
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GenotypeDepth
all individuals: 1077
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GenotypeDepth
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GenotypeQuality
all individuals: 1848
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 412
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GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5
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GenotypeQuality
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GenotypeQuality
all individuals: 13
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1683
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.506669871409686e-5
allele num: 66568
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.734304543877905e-4
allele num: 11532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.354e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

DP
type: SiteQuality
SIO_000300: 1.936935e6

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e-1

GenotypeDepth
all individuals: 3369
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 371
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

East Asian
type: Population
allele count: 2
allele frequency: 2.314814814814815e-4
allele num: 8640
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.509108398965911e-5
allele num: 66532
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.927026e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.169e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.949e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.04e-1

GenotypeDepth
all individuals: 12253
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variant carriers: 0

GenotypeDepth
all individuals: 92
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GenotypeDepth
all individuals: 188
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006072265977274e-5
allele num: 66532
num of homozygotes: 0

Other
type: Population
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South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

ReadPosRankSum
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QD
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MQRankSum
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MQ
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InbreedingCoeff
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DP
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FS
type: SiteQuality
SIO_000300: 2.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.249e-1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.019201251993861e-5
allele num: 66454
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.903513e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.207e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.055e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

GenotypeDepth
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.011231894968231e-5
allele num: 66418
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
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SIO_000300: 1.899396e6

BaseQRankSum
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SIO_000300: 3.21e0

InbreedingCoeff
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SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 7.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-2

QD
type: SiteQuality
SIO_000300: 1.603e1

GenotypeDepth
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bin: 2.5e0
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

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

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

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66450
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

QD
type: SiteQuality
SIO_000300: 1.294e1

DP
type: SiteQuality
SIO_000300: 1.901492e6

VQSLOD
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SIO_000300: -1.042e0

MQRankSum
type: SiteQuality
SIO_000300: -1.076e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 4.53e-1

MQ
type: SiteQuality
SIO_000300: 5.873e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.957e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.524907443638444e-5
allele num: 66446
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.525e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.083e0

QD
type: SiteQuality
SIO_000300: 1.38e1

FS
type: SiteQuality
SIO_000300: 7.219e0

DP
type: SiteQuality
SIO_000300: 1.902141e6

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66422
num of homozygotes: 0

South Asian
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allele count: 8
allele frequency: 4.855547462976451e-4
allele num: 16476
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.68429207824908e-5
allele num: 10326
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.740038280842179e-4
allele num: 11494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.010687942194791e-5
allele num: 66430
num of homozygotes: 0

European (Finnish)
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allele count: 0
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South Asian
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ClippingRankSum
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DP
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VQSLOD
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InbreedingCoeff
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MQ
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 3.009238361770636e-5
allele num: 66462
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.902638e6

MQ
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SIO_000300: 6.121e1

MQRankSum
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BaseQRankSum
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SIO_000300: -9.5e-2

ClippingRankSum
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SIO_000300: 1.3e0

FS
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SIO_000300: 9.192e0

InbreedingCoeff
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SIO_000300: 4.0e-4

VQSLOD
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SIO_000300: 1.21e0

ReadPosRankSum
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SIO_000300: 2.9e-2

QD
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SIO_000300: 1.663e1

GenotypeDepth
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variant carriers: 0

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

African
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allele frequency: 9.686168151879117e-5
allele num: 10324
num of homozygotes: 0

Latino
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allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

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

South Asian
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allele frequency: 2.426595486532395e-4
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 1.053360219098926e-4
allele num: 66454
num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
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VQSLOD
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ClippingRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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DP
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QD
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MQ
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ReadPosRankSum
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SIO_000300: -7.22e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66448
num of homozygotes: 0

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

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

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

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

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

BaseQRankSum
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SIO_000300: 3.35e0

QD
type: SiteQuality
SIO_000300: 1.412e1

InbreedingCoeff
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SIO_000300: 4.0e-4

FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
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SIO_000300: 6.0e1

DP
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SIO_000300: 1.902992e6

ClippingRankSum
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SIO_000300: -1.268e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505162708088744e-5
allele num: 66438
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: -1.3e-2

MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 1.49e0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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East Asian
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African
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allele frequency: 1.936483346243222e-4
allele num: 10328
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Latino
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European (Non-Finnish)
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South Asian
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DP
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InbreedingCoeff
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QD
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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FS
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MQRankSum
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MQ
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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East Asian
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allele frequency: 3.474635163307853e-4
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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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ClippingRankSum
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DP
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.505525277769414e-5
allele num: 66422
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505389293671343e-5
allele num: 66428
num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

DP
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SIO_000300: 1.911462e6

InbreedingCoeff
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MQRankSum
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QD
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

East Asian
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num of homozygotes: 0

European (Finnish)
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allele frequency: 1.530456075910621e-4
allele num: 6534
num of homozygotes: 0

South Asian
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allele num: 16478
num of homozygotes: 0

African
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num of homozygotes: 0

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

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

QD
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MQRankSum
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DP
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FS
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ReadPosRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.516031913292187e-5
allele num: 66430
num of homozygotes: 0

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

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

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

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

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

Latino
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allele frequency: 4.336513443191674e-4
allele num: 11530
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66314
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Other
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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InbreedingCoeff
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QD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508705229172324e-5
allele num: 66282
num of homozygotes: 0

MQRankSum
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FS
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ReadPosRankSum
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QD
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MQ
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DP
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -2.678e0

ClippingRankSum
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VQSLOD
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SIO_000300: -2.944e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

African
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European (Non-Finnish)
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allele frequency: 6.03554938588285e-5
allele num: 66274
num of homozygotes: 0

East Asian
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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FS
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MQ
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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Latino
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East Asian
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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QD
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MQRankSum
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BaseQRankSum
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FS
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele num: 11524
num of homozygotes: 0

South Asian
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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ReadPosRankSum
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QD
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FS
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.039194371470846e-5
allele num: 66234
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.179705846001731e-5
allele num: 16182
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.18e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.92478e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 3.369e0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16064
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510345869204048e-5
allele num: 66210
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 7.0e-4

DP
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SIO_000300: 1.92211e6

VQSLOD
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SIO_000300: -7.593e-1

MQRankSum
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SIO_000300: 5.74e-1

BaseQRankSum
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SIO_000300: -1.838e0

MQ
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SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 3.297e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 2.748e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.04467011212863e-5
allele num: 66174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.247657128576784e-5
allele num: 16006
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.792401096748923e-5
allele num: 10212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

BaseQRankSum
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SIO_000300: -1.341e0

FS
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 1.921676e6

MQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

QD
type: SiteQuality
SIO_000300: 1.155e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.800078400627205e-5
allele num: 10204
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

Latino
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allele count: 7
allele frequency: 6.072172102706454e-4
allele num: 11528
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66204
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.774e0

QD
type: SiteQuality
SIO_000300: 1.275e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
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BaseQRankSum
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SIO_000300: -6.78e-1

VQSLOD
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ClippingRankSum
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SIO_000300: 1.18e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

DP
type: SiteQuality
SIO_000300: 1.921501e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.511121856866538e-5
allele num: 66176
num of homozygotes: 0

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

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

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

African
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allele frequency: 9.800078400627205e-5
allele num: 10204
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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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ClippingRankSum
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FS
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DP
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QD
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MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.511304558094547e-5
allele num: 66168
num of homozygotes: 0

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

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

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

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

South Asian
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allele count: 2
allele frequency: 1.254390366281987e-4
allele num: 15944
num of homozygotes: 0

ReadPosRankSum
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MQ
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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SIO_000300: -1.511e0

InbreedingCoeff
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SIO_000300: 7.0e-4

DP
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QD
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GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15928
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511213201958532e-5
allele num: 66172
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.919185e6

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
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SIO_000300: -2.04e-1

InbreedingCoeff
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SIO_000300: 7.0e-4

BaseQRankSum
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SIO_000300: -4.23e-1

FS
type: SiteQuality
SIO_000300: 1.854e0

VQSLOD
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SIO_000300: 1.63e-1

QD
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ReadPosRankSum
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SIO_000300: 2.54e0

GenotypeDepth
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511487303506651e-5
allele num: 66160
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 8.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.317e0

QD
type: SiteQuality
SIO_000300: 1.35e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.918834e6

MQRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512172992590352e-5
allele num: 66130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
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SIO_000300: -3.995e0

ClippingRankSum
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SIO_000300: 2.14e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-2

FS
type: SiteQuality
SIO_000300: 2.691e0

DP
type: SiteQuality
SIO_000300: 1.917485e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

QD
type: SiteQuality
SIO_000300: 9.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeDepth
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variant carriers: 2385

GenotypeDepth
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variant carriers: 1954

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 607

GenotypeDepth
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variant carriers: 1939

GenotypeDepth
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variant carriers: 926

GenotypeDepth
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GenotypeDepth
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variant carriers: 2404

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 53

European (Finnish)
type: Population
allele count: 2650
allele frequency: 4.031031335564345e-1
allele num: 6574
num of homozygotes: 504

Other
type: Population
allele count: 327
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allele num: 892
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East Asian
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allele count: 597
allele frequency: 6.935408921933085e-2
allele num: 8608
num of homozygotes: 25

Latino
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allele count: 3609
allele frequency: 3.139352818371607e-1
allele num: 11496
num of homozygotes: 570

European (Non-Finnish)
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allele count: 27407
allele frequency: 4.148176176782201e-1
allele num: 66070
num of homozygotes: 5672

African
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allele count: 2244
allele frequency: 2.207357859531772e-1
allele num: 10166
num of homozygotes: 251

South Asian
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allele count: 2532
allele frequency: 1.601518026565465e-1
allele num: 15810
num of homozygotes: 227

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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DP
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ClippingRankSum
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SIO_000300: -3.99e-1

BaseQRankSum
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SIO_000300: -2.097e0

ReadPosRankSum
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SIO_000300: 4.36e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 77
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52494815176284e-5
allele num: 65576
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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South Asian
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European (Finnish)
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allele count: 0
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MQRankSum
type: SiteQuality
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FS
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ReadPosRankSum
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MQ
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QD
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InbreedingCoeff
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SIO_000300: -5.0e-4

BaseQRankSum
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ClippingRankSum
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SIO_000300: -7.79e-1

VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 2.962085308056872e-4
allele num: 10128
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.525646111128063e-5
allele num: 65546
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -5.0e-4

MQRankSum
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ClippingRankSum
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VQSLOD
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QD
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BaseQRankSum
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SIO_000300: -1.051e0

ReadPosRankSum
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MQ
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SIO_000300: 5.945e1

DP
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SIO_000300: 1.817323e6

FS
type: SiteQuality
SIO_000300: 5.27e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

Latino
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allele frequency: 8.704735376044568e-5
allele num: 11488
num of homozygotes: 0

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

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

South Asian
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allele count: 2
allele frequency: 1.326611833377554e-4
allele num: 15076
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65532
num of homozygotes: 0

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

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

MQRankSum
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SIO_000300: 4.05e-1

QD
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ClippingRankSum
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InbreedingCoeff
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FS
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DP
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VQSLOD
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BaseQRankSum
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MQ
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SIO_000300: 5.943e1

ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.051944088384301e-5
allele num: 65532
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

DP
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SIO_000300: 1.815314e6

ReadPosRankSum
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SIO_000300: 3.4e-1

InbreedingCoeff
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BaseQRankSum
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FS
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SIO_000300: 2.835e0

MQ
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SIO_000300: 5.943e1

ClippingRankSum
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SIO_000300: 2.78e-1

QD
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SIO_000300: 1.153e1

VQSLOD
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SIO_000300: 1.06e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 2
allele frequency: 1.749169144656288e-4
allele num: 11434
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65106
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -7.383e-1

ReadPosRankSum
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BaseQRankSum
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FS
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DP
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MQ
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MQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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SIO_000300: 1.9e-1

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele frequency: 7.194244604316547e-5
allele num: 13900
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Other
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 1
allele frequency: 7.198387561186294e-5
allele num: 13892
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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Other
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.756234632946962e-4
allele num: 11388
num of homozygotes: 0

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

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

InbreedingCoeff
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SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 3.805e0

BaseQRankSum
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SIO_000300: -2.69e0

QD
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MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
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SIO_000300: 9.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.22e-1

MQRankSum
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SIO_000300: 5.22e-1

ReadPosRankSum
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SIO_000300: -3.1e-1

DP
type: SiteQuality
SIO_000300: 1.77414e6

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64770
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 6.728e0

ClippingRankSum
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SIO_000300: 8.06e-1

QD
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SIO_000300: 1.412e1

DP
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InbreedingCoeff
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SIO_000300: 3.1e-3

MQRankSum
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BaseQRankSum
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VQSLOD
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SIO_000300: -9.719e-1

ReadPosRankSum
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SIO_000300: 4.5e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 149
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.833922261484099e-5
allele num: 11320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.018e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.485e1

VQSLOD
type: SiteQuality
SIO_000300: -5.5e-3

DP
type: SiteQuality
SIO_000300: 1.749476e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.264e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.811279487580065e-5
allele num: 12802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.93e-1

FS
type: SiteQuality
SIO_000300: 2.006e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

DP
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SIO_000300: 1.733218e6

MQRankSum
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SIO_000300: -3.162e0

BaseQRankSum
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SIO_000300: 2.81e-1

QD
type: SiteQuality
SIO_000300: 3.48e0

MQ
type: SiteQuality
SIO_000300: 5.374e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 3
allele frequency: 2.419354838709677e-4
allele num: 12400
num of homozygotes: 0

Latino
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allele count: 6
allele frequency: 5.331437711036076e-4
allele num: 11254
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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VQSLOD
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SIO_000300: 5.31e-1

BaseQRankSum
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ClippingRankSum
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SIO_000300: -2.06e-1

FS
type: SiteQuality
SIO_000300: 6.27e0

QD
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DP
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SIO_000300: 1.71797e6

GenotypeDepth
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variant carriers: 0

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

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

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

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

Other
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64022
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East Asian
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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QD
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MQ
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 800
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4193
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 193
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.093613298337708e-4
allele num: 64008
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.701189e6

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.34e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-2

GenotypeDepth
all individuals: 22734
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9785
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 420
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 121
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2209
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30105
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2030
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1536
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6481
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4180
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 750
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5348
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2298
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567250728771589e-5
allele num: 63806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12082
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11204
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.921e0

DP
type: SiteQuality
SIO_000300: 1.679564e6

VQSLOD
type: SiteQuality
SIO_000300: 2.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

QD
type: SiteQuality
SIO_000300: 1.399e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.697e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

GenotypeDepth
all individuals: 2787
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 988
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22020
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1325
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 264
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2162
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1667
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28915
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2269
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6340
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5600
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4177
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11972
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.222e0

VQSLOD
type: SiteQuality
SIO_000300: -1.491e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.478e0

FS
type: SiteQuality
SIO_000300: 3.561e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

DP
type: SiteQuality
SIO_000300: 1.662319e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.81e-1

MQ
type: SiteQuality
SIO_000300: 5.7e1

QD
type: SiteQuality
SIO_000300: 1.209e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0