http://identifiers.org/exac.variant/1-16719727-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719727
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719727
    reference: chr 1
allele count: 1
allele frequency: 8.303716743614441e-6
allele num: 120428
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.357A>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.198A>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.46A>C
  hgvsp: ENSP00000418012.1:p.Lys16Gln
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.106A>C
  hgvsp: ENSP00000383866.4:p.Lys36Gln
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.477-5931T>G
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.49A>C
  hgvsp: ENSP00000383867.3:p.Lys17Gln
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.367A>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.197A>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.46A>C
  hgvsp: ENSP00000364740.3:p.Lys16Gln
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.103A>C
  hgvsp: ENSP00000419589.1:p.Lys35Gln
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*137A>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.188A>C
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys36Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

1-16719731-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719731
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719731
    reference: chr 1
allele count: 2
allele frequency: 1.659723490066555e-5
allele num: 120502
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.50C>G
  hgvsp: ENSP00000364740.3:p.Ser17Cys
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.361C>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.107C>G
  hgvsp: ENSP00000419589.1:p.Ser36Cys
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.110C>G
  hgvsp: ENSP00000383866.4:p.Ser37Cys
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.201C>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*141C>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.53C>G
  hgvsp: ENSP00000383867.3:p.Ser18Cys
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.50C>G
  hgvsp: ENSP00000418012.1:p.Ser17Cys
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.477-5935G>C
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.371C>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.192C>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.202C>G
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31190
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser37Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

1-16719736-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719736
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719733
    reference: chr 1
allele count: 1
allele frequency: 8.294212298657997e-6
allele num: 120566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.371_373delTCC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.477-5943_477-5941delGAG
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.202_204delTCC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.381_383delTCC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.117_119delTCC
  hgvsp: ENSP00000419589.1:p.Pro40del
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.60_62delTCC
  hgvsp: ENSP00000364740.3:p.Pro21del
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.211_213delTCC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.212_214delTCC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.120_122delTCC
  hgvsp: ENSP00000383866.4:p.Pro41del
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*151_*153delTCC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.63_65delTCC
  hgvsp: ENSP00000383867.3:p.Pro22del
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.60_62delTCC
  hgvsp: ENSP00000418012.1:p.Pro21del
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro41del
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: TCTC
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-16719745-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719745
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719745
    reference: chr 1
allele count: 4
allele frequency: 3.314935441632274e-5
allele num: 120666
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.121A>C
  hgvsp: ENSP00000419589.1:p.Lys41Gln
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.477-5949T>G
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.64A>C
  hgvsp: ENSP00000364740.3:p.Lys22Gln
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.215A>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.67A>C
  hgvsp: ENSP00000383867.3:p.Lys23Gln
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.216A>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.124A>C
  hgvsp: ENSP00000383866.4:p.Lys42Gln
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*155A>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.206A>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.385A>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.64A>C
  hgvsp: ENSP00000418012.1:p.Lys22Gln
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.375A>C
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11532
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys42Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

1-16719746-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719746
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719746
    reference: chr 1
allele count: 18
allele frequency: 1.491622056118136e-4
allele num: 120674
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.68A>G
  hgvsp: ENSP00000383867.3:p.Lys23Arg
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.65A>G
  hgvsp: ENSP00000364740.3:p.Lys22Arg
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.217A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.65A>G
  hgvsp: ENSP00000418012.1:p.Lys22Arg
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.125A>G
  hgvsp: ENSP00000383866.4:p.Lys42Arg
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.376A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.477-5950T>C
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.207A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*156A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.122A>G
  hgvsp: ENSP00000419589.1:p.Lys41Arg
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.216A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.386A>G
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys42Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-16719780-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719780
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719780
    reference: chr 1
allele count: 4
allele frequency: 3.312409943854651e-5
allele num: 120758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.420C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.156C>T
  hgvsp: ENST00000471507.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.241C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.159C>T
  hgvsp: ENST00000401088.4:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.477-5984G>A
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.410C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.251C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*190C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.99C>T
  hgvsp: ENST00000375590.3:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.99C>T
  hgvsp: ENST00000492354.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.102C>T
  hgvsp: ENST00000401089.3:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.250C>T
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro53Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

1-16719781-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719781
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719781
    reference: chr 1
allele count: 17
allele frequency: 1.40772759642934e-4
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.157G>A
  hgvsp: ENSP00000419589.1:p.Ala53Thr
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.100G>A
  hgvsp: ENSP00000418012.1:p.Ala34Thr
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.103G>A
  hgvsp: ENSP00000383867.3:p.Ala35Thr
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.411G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*191G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.477-5985C>T
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.421G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.100G>A
  hgvsp: ENSP00000364740.3:p.Ala34Thr
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.251G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.160G>A
  hgvsp: ENSP00000383866.4:p.Ala54Thr
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.252G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.242G>A
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
hgvs: p.Ala54Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

1-16719782-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719782
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719782
    reference: chr 1
allele count: 10
allele frequency: 8.281436332317477e-5
allele num: 120752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.104C>T
  hgvsp: ENSP00000383867.3:p.Ala35Val
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*192C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.422C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.101C>T
  hgvsp: ENSP00000418012.1:p.Ala34Val
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.101C>T
  hgvsp: ENSP00000364740.3:p.Ala34Val
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.252C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.243C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.158C>T
  hgvsp: ENSP00000419589.1:p.Ala53Val
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.253C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.412C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.161C>T
  hgvsp: ENSP00000383866.4:p.Ala54Val
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.477-5986G>A
  variant of: http://identifiers.org/hgnc/28026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 31351
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala54Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

1-16719783-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719783
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719783
    reference: chr 1
allele count: 2
allele frequency: 1.656204971927326e-5
allele num: 120758
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.162G>A
  hgvsp: ENST00000401088.4:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.253G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.102G>A
  hgvsp: ENST00000375590.3:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.159G>A
  hgvsp: ENST00000471507.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.105G>A
  hgvsp: ENST00000401089.3:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.102G>A
  hgvsp: ENST00000492354.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*193G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.413G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.244G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.477-5987C>T
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.254G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.423G>A
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala54Ala
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

1-16719786-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719786
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719786
    reference: chr 1
allele count: 2
allele frequency: 1.656204971927326e-5
allele num: 120758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.256G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.416G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.105G>A
  hgvsp: ENST00000492354.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.105G>A
  hgvsp: ENST00000375590.3:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.162G>A
  hgvsp: ENST00000471507.1:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.247G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.165G>A
  hgvsp: ENST00000401088.4:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.477-5990C>T
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.108G>A
  hgvsp: ENST00000401089.3:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.426G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*196G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.257G>A
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly55Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

1-16719786-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719786
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719786
    reference: chr 1
allele count: 7
allele frequency: 5.79671740174564e-5
allele num: 120758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.416G>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.256G>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.105G>T
  hgvsp: ENST00000375590.3:c.105G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.165G>T
  hgvsp: ENST00000401088.4:c.165G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.105G>T
  hgvsp: ENST00000492354.1:c.105G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*196G>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.162G>T
  hgvsp: ENST00000471507.1:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.477-5990C>A
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.108G>T
  hgvsp: ENST00000401089.3:c.108G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.257G>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.247G>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.426G>T
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly55Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

1-16719788-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719788
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719788
    reference: chr 1
allele count: 4
allele frequency: 3.312409943854651e-5
allele num: 120758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.110C>T
  hgvsp: ENSP00000383867.3:p.Pro37Leu
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.259C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.167C>T
  hgvsp: ENSP00000383866.4:p.Pro56Leu
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.249C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.258C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.418C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.477-5992G>A
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.164C>T
  hgvsp: ENSP00000419589.1:p.Pro55Leu
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*198C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.107C>T
  hgvsp: ENSP00000364740.3:p.Pro36Leu
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.428C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.107C>T
  hgvsp: ENSP00000418012.1:p.Pro36Leu
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro56Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

1-16719803-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719803
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719803
    reference: chr 1
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.433G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.264G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*213G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.477-6007C>T
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.182G>A
  hgvsp: ENSP00000383866.4:p.Arg61His
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.122G>A
  hgvsp: ENSP00000418012.1:p.Arg41His
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.125G>A
  hgvsp: ENSP00000383867.3:p.Arg42His
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.273G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.179G>A
  hgvsp: ENSP00000419589.1:p.Arg60His
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.122G>A
  hgvsp: ENSP00000364740.3:p.Arg41His
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.443G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.274G>A
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31355
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg61His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-16719805-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719805
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719805
    reference: chr 1
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.445A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.181A>G
  hgvsp: ENSP00000419589.1:p.Ile61Val
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.266A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.124A>G
  hgvsp: ENSP00000364740.3:p.Ile42Val
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.124A>G
  hgvsp: ENSP00000418012.1:p.Ile42Val
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.184A>G
  hgvsp: ENSP00000383866.4:p.Ile62Val
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.435A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.127A>G
  hgvsp: ENSP00000383867.3:p.Ile43Val
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*215A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.275A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.477-6009T>C
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.276A>G
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile62Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

1-16719815-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719815
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719815
    reference: chr 1
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.134G>A
  hgvsp: ENSP00000364740.3:p.Arg45Lys
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.455G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.285G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.477-6019C>T
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.194G>A
  hgvsp: ENSP00000383866.4:p.Arg65Lys
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.134G>A
  hgvsp: ENSP00000418012.1:p.Arg45Lys
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.276G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.445G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.137G>A
  hgvsp: ENSP00000383867.3:p.Arg46Lys
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.191G>A
  hgvsp: ENSP00000419589.1:p.Arg64Lys
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.286G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*225G>A
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg65Lys
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

1-16719823-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719823
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719823
    reference: chr 1
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.142A>G
  hgvsp: ENSP00000364740.3:p.Ser48Gly
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.293A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.145A>G
  hgvsp: ENSP00000383867.3:p.Ser49Gly
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.453A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.142A>G
  hgvsp: ENSP00000418012.1:p.Ser48Gly
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.199A>G
  hgvsp: ENSP00000419589.1:p.Ser67Gly
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.284A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.463A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.202A>G
  hgvsp: ENSP00000383866.4:p.Ser68Gly
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.294A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+6016T>C
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*233A>G
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser68Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

1-16719828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719828
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719828
    reference: chr 1
allele count: 2
allele frequency: 1.657495193263939e-5
allele num: 120664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.458C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.147C>T
  hgvsp: ENST00000375590.3:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.147C>T
  hgvsp: ENST00000492354.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.298C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.204C>T
  hgvsp: ENST00000471507.1:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.468C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.207C>T
  hgvsp: ENST00000401088.4:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*238C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.289C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+6011G>A
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.299C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.150C>T
  hgvsp: ENST00000401089.3:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn69Asn
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-16719829-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719829
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719829
    reference: chr 1
allele count: 1
allele frequency: 8.287613333112331e-6
allele num: 120662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+6010C>G
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.205G>C
  hgvsp: ENSP00000419589.1:p.Gly69Arg
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.208G>C
  hgvsp: ENSP00000383866.4:p.Gly70Arg
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.300G>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.148G>C
  hgvsp: ENSP00000364740.3:p.Gly50Arg
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.469G>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.290G>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.299G>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.459G>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.151G>C
  hgvsp: ENSP00000383867.3:p.Gly51Arg
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*239G>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.148G>C
  hgvsp: ENSP00000418012.1:p.Gly50Arg
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31259
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly70Arg
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-16719830-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719830
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719830
    reference: chr 1
allele count: 1
allele frequency: 8.287613333112331e-6
allele num: 120662
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.460G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.209G>A
  hgvsp: ENSP00000383866.4:p.Gly70Asp
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.206G>A
  hgvsp: ENSP00000419589.1:p.Gly69Asp
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.152G>A
  hgvsp: ENSP00000383867.3:p.Gly51Asp
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.149G>A
  hgvsp: ENSP00000364740.3:p.Gly50Asp
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.301G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.149G>A
  hgvsp: ENSP00000418012.1:p.Gly50Asp
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.291G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*240G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.300G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.470G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+6009C>T
  variant of: http://identifiers.org/hgnc/28026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly70Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-16719830-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719830
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719830
    reference: chr 1
allele count: 1
allele frequency: 8.287613333112331e-6
allele num: 120662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.470G>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.149G>T
  hgvsp: ENSP00000364740.3:p.Gly50Val
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.152G>T
  hgvsp: ENSP00000383867.3:p.Gly51Val
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*240G>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.460G>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.206G>T
  hgvsp: ENSP00000419589.1:p.Gly69Val
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+6009C>A
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.149G>T
  hgvsp: ENSP00000418012.1:p.Gly50Val
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.209G>T
  hgvsp: ENSP00000383866.4:p.Gly70Val
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.291G>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.301G>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.300G>T
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly70Val
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-16719838-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719838
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719838
    reference: chr 1
allele count: 1
allele frequency: 8.290636555074699e-6
allele num: 120618
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.157A>G
  hgvsp: ENSP00000364740.3:p.Ser53Gly
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.468A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.157A>G
  hgvsp: ENSP00000418012.1:p.Ser53Gly
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*248A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.309A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.299A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.214A>G
  hgvsp: ENSP00000419589.1:p.Ser72Gly
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.217A>G
  hgvsp: ENSP00000383866.4:p.Ser73Gly
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+6001T>C
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.308A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.160A>G
  hgvsp: ENSP00000383867.3:p.Ser54Gly
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.478A>G
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser73Gly
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-16719846-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719846
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719846
    reference: chr 1
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.168C>T
  hgvsp: ENST00000401089.3:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.165C>T
  hgvsp: ENST00000492354.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5993G>A
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*256C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.165C>T
  hgvsp: ENST00000375590.3:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.222C>T
  hgvsp: ENST00000471507.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.486C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.317C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.307C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.316C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.225C>T
  hgvsp: ENST00000401088.4:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.476C>T
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro75Pro
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-16719847-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719847
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719847
    reference: chr 1
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.318A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.477A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.308A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.166A>G
  hgvsp: ENSP00000364740.3:p.Asn56Asp
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.487A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.166A>G
  hgvsp: ENSP00000418012.1:p.Asn56Asp
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*257A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.223A>G
  hgvsp: ENSP00000419589.1:p.Asn75Asp
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.317A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.169A>G
  hgvsp: ENSP00000383867.3:p.Asn57Asp
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5992T>C
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.226A>G
  hgvsp: ENSP00000383866.4:p.Asn76Asp
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn76Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

1-16719848-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719848
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719848
    reference: chr 1
allele count: 28
allele frequency: 2.323150191659891e-4
allele num: 120526
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475078
  gene symbol: SZRD1
  hgvsc: ENST00000475078.1:n.488A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5991T>C
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.319A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.167A>G
  hgvsp: ENSP00000418012.1:p.Asn56Ser
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*258A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.167A>G
  hgvsp: ENSP00000364740.3:p.Asn56Ser
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.224A>G
  hgvsp: ENSP00000419589.1:p.Asn75Ser
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.318A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.170A>G
  hgvsp: ENSP00000383867.3:p.Asn57Ser
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.309A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.227A>G
  hgvsp: ENSP00000383866.4:p.Asn76Ser
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.478A>G
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11268
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Asn76Ser
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum

1-16719855-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719855
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719855
    reference: chr 1
allele count: 2
allele frequency: 1.660302174995849e-5
allele num: 120460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5984G>A
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.325C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.316C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.326C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.174C>T
  hgvsp: ENST00000375590.3:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.174C>T
  hgvsp: ENST00000492354.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.234C>T
  hgvsp: ENST00000401088.4:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.485C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.231C>T
  hgvsp: ENST00000471507.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*265C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.177C>T
  hgvsp: ENST00000401089.3:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr78Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

1-16719857-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719857
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719857
    reference: chr 1
allele count: 1
allele frequency: 8.30137304710199e-6
allele num: 120462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.176G>A
  hgvsp: ENSP00000364740.3:p.Ser59Asn
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.236G>A
  hgvsp: ENSP00000383866.4:p.Ser79Asn
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.318G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*267G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.327G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.233G>A
  hgvsp: ENSP00000419589.1:p.Ser78Asn
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.179G>A
  hgvsp: ENSP00000383867.3:p.Ser60Asn
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5982C>T
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.176G>A
  hgvsp: ENSP00000418012.1:p.Ser59Asn
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.487G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.328G>A
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser79Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

1-16719866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719866
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719866
    reference: chr 1
allele count: 3
allele frequency: 2.492108323641801e-5
allele num: 120380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*276C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.185C>T
  hgvsp: ENSP00000364740.3:p.Thr62Ile
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.185C>T
  hgvsp: ENSP00000418012.1:p.Thr62Ile
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5973G>A
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.188C>T
  hgvsp: ENSP00000383867.3:p.Thr63Ile
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.327C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.337C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.242C>T
  hgvsp: ENSP00000419589.1:p.Thr81Ile
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.245C>T
  hgvsp: ENSP00000383866.4:p.Thr82Ile
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.496C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.336C>T
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr82Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-16719868-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719868
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719868
    reference: chr 1
allele count: 3
allele frequency: 2.492108323641801e-5
allele num: 120380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.244C>A
  hgvsp: ENSP00000419589.1:p.Leu82Ile
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.338C>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.187C>A
  hgvsp: ENSP00000364740.3:p.Leu63Ile
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.329C>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5971G>T
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.498C>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.187C>A
  hgvsp: ENSP00000418012.1:p.Leu63Ile
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.339C>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000420441
  ensembl transcript: ENST00000476423
  gene symbol: SZRD1
  hgvsc: ENST00000476423.1:c.*278C>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.247C>A
  hgvsp: ENSP00000383866.4:p.Leu83Ile
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.190C>A
  hgvsp: ENSP00000383867.3:p.Leu64Ile
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu83Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-16719883-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719883
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719883
    reference: chr 1
allele count: 1
allele frequency: 8.326949338840222e-6
allele num: 120092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.513C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.202C>T
  hgvsp: ENST00000375590.3:c.202C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.353C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.259C>T
  hgvsp: ENST00000471507.1:c.259C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.262C>T
  hgvsp: ENST00000401088.4:c.262C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.354C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.344C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5956G>A
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.202C>T
  hgvsp: ENST00000492354.1:c.202C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.205C>T
  hgvsp: ENST00000401089.3:c.205C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu88Leu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

1-16719900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719900
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719900
    reference: chr 1
allele count: 209
allele frequency: 1.760059286207535e-3
allele num: 118746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.219C>T
  hgvsp: ENST00000492354.1:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.361C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.276C>T
  hgvsp: ENST00000471507.1:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.219C>T
  hgvsp: ENST00000375590.3:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.371C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.370C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.222C>T
  hgvsp: ENST00000401089.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.530C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.279C>T
  hgvsp: ENST00000401088.4:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5939G>A
  variant of: http://identifiers.org/hgnc/28026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 30117
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14444
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10451
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 9.75e1
  variant carriers: 204
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala93Ala
num of homozygotes: 3
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-16719906-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719906
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719906
    reference: chr 1
allele count: 33
allele frequency: 2.797463632972771e-4
allele num: 117964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.282C>T
  hgvsp: ENST00000471507.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.225C>T
  hgvsp: ENST00000492354.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.536C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.225C>T
  hgvsp: ENST00000375590.3:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.377C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.228C>T
  hgvsp: ENST00000401089.3:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.285C>T
  hgvsp: ENST00000401088.4:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5933G>A
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.376C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.367C>T
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 9.75e1
  variant carriers: 33
hgvs: p.Tyr95Tyr
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: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum

1-16719909-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719909
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719909
    reference: chr 1
allele count: 3
allele frequency: 2.547121752419766e-5
allele num: 117780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.370C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.285C>T
  hgvsp: ENST00000471507.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.228C>T
  hgvsp: ENST00000492354.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.231C>T
  hgvsp: ENST00000401089.3:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.228C>T
  hgvsp: ENST00000375590.3:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.380C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.288C>T
  hgvsp: ENST00000401088.4:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5930G>A
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.539C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.379C>T
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala96Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-16719910-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719910
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719910
    reference: chr 1
allele count: 1
allele frequency: 8.498342823149486e-6
allele num: 117670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.286G>A
  hgvsp: ENSP00000419589.1:p.Glu96Lys
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.229G>A
  hgvsp: ENSP00000418012.1:p.Glu77Lys
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5929C>T
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.381G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.289G>A
  hgvsp: ENSP00000383866.4:p.Glu97Lys
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.380G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.371G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.232G>A
  hgvsp: ENSP00000383867.3:p.Glu78Lys
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.229G>A
  hgvsp: ENSP00000364740.3:p.Glu77Lys
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.540G>A
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu97Lys
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

1-16719912-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719912
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719912
    reference: chr 1
allele count: 1
allele frequency: 8.515131388477325e-6
allele num: 117438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.231G>A
  hgvsp: ENST00000375590.3:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.234G>A
  hgvsp: ENST00000401089.3:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.231G>A
  hgvsp: ENST00000492354.1:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.382G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5927C>T
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.291G>A
  hgvsp: ENST00000401088.4:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.383G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.288G>A
  hgvsp: ENST00000471507.1:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.542G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.373G>A
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu97Glu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-16719921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719921
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719921
    reference: chr 1
allele count: 1
allele frequency: 8.656359827565313e-6
allele num: 115522
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.297G>A
  hgvsp: ENST00000471507.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.391G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.240G>A
  hgvsp: ENST00000375590.3:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.551G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5918C>T
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.243G>A
  hgvsp: ENST00000401089.3:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.392G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.300G>A
  hgvsp: ENST00000401088.4:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.240G>A
  hgvsp: ENST00000492354.1:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.382G>A
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys100Lys
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-16719927-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719927
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719927
    reference: chr 1
allele count: 1
allele frequency: 8.798479622721194e-6
allele num: 113656
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.303C>T
  hgvsp: ENST00000471507.1:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.246C>T
  hgvsp: ENST00000375590.3:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.397C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.249C>T
  hgvsp: ENST00000401089.3:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.246C>T
  hgvsp: ENST00000492354.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5912G>A
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.388C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.306C>T
  hgvsp: ENST00000401088.4:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.398C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.557C>T
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7801
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile102Ile
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/1-16719933-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719933
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719933
    reference: chr 1
allele count: 2
allele frequency: 1.802841277853898e-5
allele num: 110936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.404C>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.312C>A
  hgvsp: ENST00000401088.4:c.312C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.563C>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.252C>A
  hgvsp: ENST00000375590.3:c.252C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.252C>A
  hgvsp: ENST00000492354.1:c.252C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.309C>A
  hgvsp: ENST00000471507.1:c.309C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.394C>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.255C>A
  hgvsp: ENST00000401089.3:c.255C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.403C>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5906G>T
  variant of: http://identifiers.org/hgnc/28026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15267
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Gly104Gly
num of homozygotes: 1
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-16719943-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719943
    reference: chr 1
allele count: 4
allele frequency: 3.828777088597902e-5
allele num: 104472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.262C>T
  hgvsp: ENSP00000418012.1:p.Pro88Ser
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.322C>T
  hgvsp: ENSP00000383866.4:p.Pro108Ser
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.414C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.404C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.265C>T
  hgvsp: ENSP00000383867.3:p.Pro89Ser
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.262C>T
  hgvsp: ENSP00000364740.3:p.Pro88Ser
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.573C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.413C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.319C>T
  hgvsp: ENSP00000419589.1:p.Pro107Ser
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5896G>A
  variant of: http://identifiers.org/hgnc/28026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14500
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21350
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro108Ser
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

1-16719945-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719945
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719945
    reference: chr 1
allele count: 7
allele frequency: 6.855217800062676e-5
allele num: 102112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.575C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.267C>T
  hgvsp: ENST00000401089.3:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.321C>T
  hgvsp: ENST00000471507.1:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.264C>T
  hgvsp: ENST00000492354.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.415C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.416C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.264C>T
  hgvsp: ENST00000375590.3:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.406C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5894G>A
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.324C>T
  hgvsp: ENST00000401088.4:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14154
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19673
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15842
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro108Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

1-16719959-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719959
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719959
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 93820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.430A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.278A>G
  hgvsp: ENSP00000364740.3:p.Glu93Gly
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5880T>C
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.281A>G
  hgvsp: ENSP00000383867.3:p.Glu94Gly
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.338A>G
  hgvsp: ENSP00000383866.4:p.Glu113Gly
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.335A>G
  hgvsp: ENSP00000419589.1:p.Glu112Gly
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.420A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.278A>G
  hgvsp: ENSP00000418012.1:p.Glu93Gly
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.589A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.429A>G
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 14260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12470
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu113Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-16719972-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719972
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719972
    reference: chr 1
allele count: 1
allele frequency: 1.223211664546433e-5
allele num: 81752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.442C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.351C>T
  hgvsp: ENST00000401088.4:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.294C>T
  hgvsp: ENST00000401089.3:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.443C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.291C>T
  hgvsp: ENST00000375590.3:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.291C>T
  hgvsp: ENST00000492354.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.433C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.348C>T
  hgvsp: ENST00000471507.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5867G>A
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.602C>T
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17032
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9498
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14826
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu117Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP

1-16719973-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719973
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719973
    reference: chr 1
allele count: 12
allele frequency: 1.481627815092849e-4
allele num: 80992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.292G>A
  hgvsp: ENSP00000364740.3:p.Asp98Asn
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.349G>A
  hgvsp: ENSP00000419589.1:p.Asp117Asn
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5866C>T
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.443G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.352G>A
  hgvsp: ENSP00000383866.4:p.Asp118Asn
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.295G>A
  hgvsp: ENSP00000383867.3:p.Asp99Asn
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.603G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.292G>A
  hgvsp: ENSP00000418012.1:p.Asp98Asn
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.444G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.434G>A
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19164
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9332
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp118Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

1-16719985-TGGCTGGCAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719985
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719976
    reference: chr 1
allele count: 1
allele frequency: 1.397350623218378e-5
allele num: 71564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3877
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32827
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: TGGCTGGCAG
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

1-16719987-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719987
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719987
    reference: chr 1
allele count: 3
allele frequency: 4.388659703326604e-5
allele num: 68358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.296+10G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.607+10G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.299+10G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5852C>T
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.356+10G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.438+10G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.448+10G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.353+10G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.447+10G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.296+10G>A
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5816
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

1-16719998-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719998
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719998
    reference: chr 1
allele count: 1
allele frequency: 1.770914500247928e-5
allele num: 56468
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.353+21C>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.447+21C>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.356+21C>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.438+21C>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.296+21C>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.448+21C>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5841G>C
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.296+21C>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.299+21C>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.607+21C>G
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22964
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18737
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9055
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-16719998-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719998
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719998
    reference: chr 1
allele count: 3
allele frequency: 5.312743500743784e-5
allele num: 56468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.296+21C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.438+21C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.607+21C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.299+21C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.353+21C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.448+21C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.356+21C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.296+21C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5841G>A
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.447+21C>T
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22964
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18737
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum

1-16719999-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16719999
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16719999
    reference: chr 1
allele count: 1
allele frequency: 1.903384217138071e-5
allele num: 52538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5840C>T
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.607+22G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.447+22G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.296+22G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.356+22G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.438+22G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.296+22G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.353+22G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.448+22G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.299+22G>A
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17928
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-16720003-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16720003
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16720003
    reference: chr 1
allele count: 1
allele frequency: 1.927079318584753e-5
allele num: 51892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5836T>C
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.607+26A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.353+26A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.356+26A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.438+26A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.296+26A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.448+26A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.299+26A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.296+26A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.447+26A>G
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17427
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9850
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

1-16720005-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16720005
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16720005
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 50902
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.607+28T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.448+28T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.296+28T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.353+28T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.296+28T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.438+28T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.299+28T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5834A>G
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.447+28T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.356+28T>C
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24034
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3761
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: T
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

1-16720010-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16720010
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16720010
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 48428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.353+33G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5829C>T
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.299+33G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.296+33G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.607+33G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.296+33G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.447+33G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.356+33G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.448+33G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.438+33G>A
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24127
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3384
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

1-16720014-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16720014
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16720014
    reference: chr 1
allele count: 1
allele frequency: 2.163565556036348e-5
allele num: 46220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.607+37T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.356+37T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.447+37T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.448+37T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.296+37T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.438+37T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5825A>G
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.296+37T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.299+37T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.353+37T>C
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12019
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23926
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

1-16720015-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16720015
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16720015
    reference: chr 1
allele count: 1
allele frequency: 2.298639205590291e-5
allele num: 43504
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.296+38C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.438+38C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.353+38C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.447+38C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.356+38C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.296+38C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.607+38C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5824G>A
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.299+38C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.448+38C>T
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14380
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3615
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

1-16720020-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16720020
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16720020
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 41490
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.353+43T>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.438+43T>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.296+43T>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.447+43T>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.448+43T>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.296+43T>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.299+43T>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.607+43T>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5819A>C
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.356+43T>G
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26251
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3560
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5781
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19062
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-16720026-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16720026
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16720026
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 37774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.296+49C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.356+49C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.353+49C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.447+49C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.299+49C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.607+49C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.438+49C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.448+49C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5813G>A
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.296+49C>T
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27521
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13773
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7075
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

1-16720027-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16720027
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16720027
    reference: chr 1
allele count: 3
allele frequency: 8.154389779831477e-5
allele num: 36790
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.356+50G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.353+50G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.296+50G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.296+50G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5812C>T
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.299+50G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.438+50G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.607+50G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.448+50G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.447+50G>A
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11730
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12626
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27750
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13515
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-16720027-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16720027
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16720027
    reference: chr 1
allele count: 18
allele frequency: 4.892633867898885e-4
allele num: 36790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+5812C>G
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.447+50G>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.296+50G>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.296+50G>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.299+50G>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.448+50G>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.356+50G>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.438+50G>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.353+50G>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.607+50G>C
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11730
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12626
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27750
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7182
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 9.75e1
  variant carriers: 19
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

1-16721482-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16721482
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16721482
    reference: chr 1
allele count: 1
allele frequency: 8.595939278284938e-6
allele num: 116334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.449-51G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+4357C>T
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.354-51G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.448-51G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.357-51G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.608-51G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.297-51G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.439-51G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.300-51G>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.297-51G>A
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19030
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

1-16721488-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16721488
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16721488
    reference: chr 1
allele count: 1
allele frequency: 8.57368222504201e-6
allele num: 116636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.608-45T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.354-45T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.297-45T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.439-45T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.449-45T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+4351A>G
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.297-45T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.448-45T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.300-45T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.357-45T>C
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19470
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20440
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 3.25e1
  variant carriers: 0
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: T
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-16721495-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16721495
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16721495
    reference: chr 1
allele count: 1
allele frequency: 8.557980316645272e-6
allele num: 116850
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+4344A>G
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.448-38T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.449-38T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.439-38T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.297-38T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.608-38T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.297-38T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.300-38T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.354-38T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.357-38T>C
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-16721496-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16721496
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16721493
    reference: chr 1
allele count: 1
allele frequency: 8.559445347941453e-6
allele num: 116830
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.439-32_439-30delTTC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.354-32_354-30delTTC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.297-32_297-30delTTC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.448-32_448-30delTTC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.357-32_357-30delTTC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.300-32_300-30delTTC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.297-32_297-30delTTC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+4340_476+4342delAAG
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.608-32_608-30delTTC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.449-32_449-30delTTC
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: CCTT
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

1-16721499-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16721499
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16721499
    reference: chr 1
allele count: 1
allele frequency: 8.538251366120219e-6
allele num: 117120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.300-34T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.357-34T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.439-34T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.297-34T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.449-34T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.354-34T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.448-34T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+4340A>G
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.297-34T>C
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.608-34T>C
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

1-16721523-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16721523
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16721523
    reference: chr 1
allele count: 1
allele frequency: 8.396728634523989e-6
allele num: 119094
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.357-10T>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.354-10T>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+4316A>T
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.608-10T>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.297-10T>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.439-10T>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.449-10T>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.297-10T>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.448-10T>A
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.300-10T>A
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

1-16721524-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16721524
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16721523
    reference: chr 1
allele count: 3
allele frequency: 2.518384204694268e-5
allele num: 119124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+4314delG
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.300-7delC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.297-7delC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.439-7delC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.354-7delC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.449-7delC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.357-7delC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.608-7delC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.448-7delC
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.297-7delC
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
hgvs: c.357-7delC
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TC
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

1-16721526-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16721526
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16721526
    reference: chr 1
allele count: 3
allele frequency: 2.515343595935205e-5
allele num: 119268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.608-7C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.297-7C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.439-7C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.297-7C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.448-7C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.354-7C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.300-7C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.449-7C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.357-7C>T
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+4313G>A
  variant of: http://identifiers.org/hgnc/28026
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
hgvs: c.357-7C>T
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

1-16721527-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16721527
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16721527
    reference: chr 1
allele count: 1
allele frequency: 8.378437253883405e-6
allele num: 119354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+4312A>C
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.608-6T>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.300-6T>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.354-6T>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.449-6T>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.297-6T>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.297-6T>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.357-6T>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.448-6T>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.439-6T>G
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47805
  bin: 6.25e1
  variant carriers: 0
hgvs: c.357-6T>G
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-16721537-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16721537
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16721537
    reference: chr 1
allele count: 1
allele frequency: 8.340840089413805e-6
allele num: 119892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.453A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.361A>G
  hgvsp: ENSP00000383866.4:p.Thr121Ala
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+4302T>C
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.612A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.443A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.452A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.358A>G
  hgvsp: ENSP00000419589.1:p.Thr120Ala
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.304A>G
  hgvsp: ENSP00000383867.3:p.Thr102Ala
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.301A>G
  hgvsp: ENSP00000418012.1:p.Thr101Ala
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.301A>G
  hgvsp: ENSP00000364740.3:p.Thr101Ala
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr121Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

1-16721540-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16721540
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16721540
    reference: chr 1
allele count: 1
allele frequency: 8.334305668994715e-6
allele num: 119986
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+4299T>C
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.307A>G
  hgvsp: ENSP00000383867.3:p.Arg103Gly
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.455A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.361A>G
  hgvsp: ENSP00000419589.1:p.Arg121Gly
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.304A>G
  hgvsp: ENSP00000364740.3:p.Arg102Gly
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.304A>G
  hgvsp: ENSP00000418012.1:p.Arg102Gly
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.446A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.615A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.456A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.364A>G
  hgvsp: ENSP00000383866.4:p.Arg122Gly
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg122Gly
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

1-16721551-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16721551
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16721551
    reference: chr 1
allele count: 4
allele frequency: 3.325905477766322e-5
allele num: 120268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187144
  ensembl protein: ENSP00000420753
  ensembl transcript: ENST00000491418
  gene symbol: SPATA21
  hgvsc: ENST00000491418.1:c.476+4288T>C
  variant of: http://identifiers.org/hgnc/28026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000364740
  ensembl transcript: ENST00000375590
  gene symbol: SZRD1
  hgvsc: ENST00000375590.3:c.315A>G
  hgvsp: ENST00000375590.3:c.315A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000486763
  gene symbol: SZRD1
  hgvsc: ENST00000486763.1:n.466A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472351
  gene symbol: SZRD1
  hgvsc: ENST00000472351.1:n.457A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383866
  ensembl transcript: ENST00000401088
  gene symbol: SZRD1
  hgvsc: ENST00000401088.4:c.375A>G
  hgvsp: ENST00000401088.4:c.375A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000419589
  ensembl transcript: ENST00000471507
  gene symbol: SZRD1
  hgvsc: ENST00000471507.1:c.372A>G
  hgvsp: ENST00000471507.1:c.372A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000383867
  ensembl transcript: ENST00000401089
  gene symbol: SZRD1
  hgvsc: ENST00000401089.3:c.318A>G
  hgvsp: ENST00000401089.3:c.318A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000472461
  gene symbol: SZRD1
  hgvsc: ENST00000472461.1:n.626A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055070
  ensembl transcript: ENST00000475554
  gene symbol: SZRD1
  hgvsc: ENST00000475554.1:n.467A>G
  variant of: http://identifiers.org/hgnc/30232
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055070
  ensembl protein: ENSP00000418012
  ensembl transcript: ENST00000492354
  gene symbol: SZRD1
  hgvsc: ENST00000492354.1:c.315A>G
  hgvsp: ENST00000492354.1:c.315A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30232
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7920
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln125Gln
num of homozygotes: 0
population: European (Non-Finnish)
reference allele: A

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 599
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 186
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8738
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1995
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1715
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45353
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.04e-1

DP
type: SiteQuality
SIO_000300: 1.667518e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

QD
type: SiteQuality
SIO_000300: 1.454e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.74e0

GenotypeDepth
all individuals: 14250
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 150
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8737
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1718
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45406
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.11545988258317e-5
allele num: 16352
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

FS
type: SiteQuality
SIO_000300: 9.163e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

QD
type: SiteQuality
SIO_000300: 1.514e1

DP
type: SiteQuality
SIO_000300: 1.668383e6

VQSLOD
type: SiteQuality
SIO_000300: -7.857e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeDepth
all individuals: 1834
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 110
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8745
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45490
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.631e0

MQ
type: SiteQuality
SIO_000300: 5.7e1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.46e-1

FS
type: SiteQuality
SIO_000300: 1.041e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

QD
type: SiteQuality
SIO_000300: 1.254e1

DP
type: SiteQuality
SIO_000300: 1.669165e6

GenotypeDepth
all individuals: 13
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8750
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45589
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 259
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1720
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.99610253335332e-5
allele num: 66710
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
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

DP
type: SiteQuality
SIO_000300: 1.669914e6

FS
type: SiteQuality
SIO_000300: 6.601e0

InbreedingCoeff
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SIO_000300: 5.1e-3

VQSLOD
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ReadPosRankSum
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SIO_000300: 5.8e-2

BaseQRankSum
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SIO_000300: -2.89e-1

QD
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SIO_000300: 1.234e1

ClippingRankSum
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SIO_000300: -8.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

MQ
type: SiteQuality
SIO_000300: 5.949e1

GenotypeDepth
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bin: 9.75e1
variant carriers: 18

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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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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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 18

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 8.25e1
variant carriers: 0

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

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

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

Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

Latino
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allele frequency: 1.554941257774706e-3
allele num: 11576
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

DP
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SIO_000300: 1.670252e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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MQ
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SIO_000300: 5.966e1

InbreedingCoeff
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SIO_000300: 4.3e-3

QD
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SIO_000300: 1.413e1

ClippingRankSum
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SIO_000300: -4.07e-1

BaseQRankSum
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SIO_000300: 4.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 1718
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GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

African
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allele count: 2
allele frequency: 2.040816326530612e-4
allele num: 9800
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

DP
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SIO_000300: 1.66805e6

QD
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SIO_000300: 1.314e1

VQSLOD
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SIO_000300: 2.73e0

MQRankSum
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SIO_000300: 1.6e-2

MQ
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SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

FS
type: SiteQuality
SIO_000300: 1.881e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 8.25e1
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GenotypeQuality
all individuals: 913
bin: 9.75e1
variant carriers: 17

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.547427098630383e-4
allele num: 66734
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.29e1

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

BaseQRankSum
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DP
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SIO_000300: 1.667396e6

InbreedingCoeff
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SIO_000300: 4.0e-3

ClippingRankSum
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SIO_000300: -3.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.25e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 2003
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

East Asian
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allele frequency: 2.319109461966605e-4
allele num: 8624
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
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allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

South Asian
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allele frequency: 3.63460140537921e-4
allele num: 16508
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FS
type: SiteQuality
SIO_000300: 1.758e0

MQRankSum
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SIO_000300: 3.3e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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DP
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BaseQRankSum
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SIO_000300: 7.53e-1

ClippingRankSum
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SIO_000300: -7.83e-1

QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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allele num: 900
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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 frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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DP
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
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MQRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 2

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

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
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allele num: 16512
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Other
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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DP
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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FS
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MQ
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QD
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VQSLOD
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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: 0

GenotypeQuality
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GenotypeQuality
all individuals: 883
bin: 9.75e1
variant carriers: 7

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

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

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

European (Non-Finnish)
type: Population
allele count: 7
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allele num: 66732
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Other
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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ReadPosRankSum
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SIO_000300: 5.37e-1

MQ
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SIO_000300: 5.975e1

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

African
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allele frequency: 4.082465809348847e-4
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num of homozygotes: 0

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

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

European (Finnish)
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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Other
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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: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

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 (Non-Finnish)
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allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

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
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num of homozygotes: 0

Other
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European (Finnish)
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allele num: 6614
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East Asian
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European (Non-Finnish)
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African
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South Asian
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FS
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ReadPosRankSum
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MQ
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QD
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BaseQRankSum
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DP
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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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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num of homozygotes: 0

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

African
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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.68e-1

QD
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SIO_000300: 1.062e1

MQ
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SIO_000300: 5.976e1

BaseQRankSum
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SIO_000300: -2.357e0

VQSLOD
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SIO_000300: 4.2e-2

ClippingRankSum
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SIO_000300: 8.090000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.657848e6

FS
type: SiteQuality
SIO_000300: 3.258e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.375e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

GenotypeDepth
all individuals: 143
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.127e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 5.1e-3

VQSLOD
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SIO_000300: 9.7e-2

MQRankSum
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SIO_000300: 1.68e0

ReadPosRankSum
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SIO_000300: 1.36e0

BaseQRankSum
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SIO_000300: -4.137e0

MQ
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SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.68e-1

DP
type: SiteQuality
SIO_000300: 1.657867e6

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-2

FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 1.657867e6

MQRankSum
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SIO_000300: 1.68e0

QD
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MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
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SIO_000300: 5.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
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SIO_000300: -4.137e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.024590163934426e-4
allele num: 9760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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: 898
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.78e-1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.284e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -1.76e-1

InbreedingCoeff
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MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

BaseQRankSum
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SIO_000300: -1.672e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.13e-1

QD
type: SiteQuality
SIO_000300: 1.046e1

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1690
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 746
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.123e0

DP
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MQ
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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ReadPosRankSum
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QD
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MQRankSum
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SIO_000300: 1.27e0

VQSLOD
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SIO_000300: -2.828e-1

BaseQRankSum
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SIO_000300: -2.784e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
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
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InbreedingCoeff
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MQ
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MQRankSum
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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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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.13e-1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

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

African
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allele frequency: 2.360426929392447e-3
allele num: 9744
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8626
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European (Finnish)
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allele count: 0
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South Asian
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allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66582
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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VQSLOD
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MQ
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FS
type: SiteQuality
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DP
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005620510354363e-5
allele num: 66542
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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East Asian
type: Population
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Other
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InbreedingCoeff
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SIO_000300: 4.1e-3

MQRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.385e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e-2

DP
type: SiteQuality
SIO_000300: 1.648986e6

GenotypeQuality
all individuals: 8592
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1686
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45386
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 7.5e0
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.81e-1

FS
type: SiteQuality
SIO_000300: 1.853e0

QD
type: SiteQuality
SIO_000300: 1.089e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.216e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 1.648703e6

GenotypeQuality
all individuals: 725
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 110
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.030078285949732e-4
allele num: 9708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 1.645316e6

MQ
type: SiteQuality
SIO_000300: 5.925e1

FS
type: SiteQuality
SIO_000300: 5.598e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.347e0

QD
type: SiteQuality
SIO_000300: 1.155e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.63e-1

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

GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 8577
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GenotypeQuality
all individuals: 231
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GenotypeQuality
all individuals: 24
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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
all individuals: 3
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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
all individuals: 459
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GenotypeQuality
all individuals: 1925
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variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 212
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007518796992481e-5
allele num: 66500
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
allele num: 892
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 1.645139e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.137e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

FS
type: SiteQuality
SIO_000300: 3.057e0

QD
type: SiteQuality
SIO_000300: 1.311e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.72e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

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

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 225
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variant carriers: 0

GenotypeQuality
all individuals: 1896
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variant carriers: 0

GenotypeQuality
all individuals: 45111
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 8479
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variant carriers: 0

GenotypeQuality
all individuals: 710
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variant carriers: 0

GenotypeQuality
all individuals: 798
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GenotypeQuality
all individuals: 211
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GenotypeQuality
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GenotypeQuality
all individuals: 1638
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 2.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508295625942685e-5
allele num: 66300
num of homozygotes: 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: 11560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.636663e6

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.43e0

VQSLOD
type: SiteQuality
SIO_000300: -5.295e-1

FS
type: SiteQuality
SIO_000300: 1.316e0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
all individuals: 7852
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 31
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GenotypeQuality
all individuals: 1732
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 107
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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
all individuals: 148
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variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 1

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

African
type: Population
allele count: 201
allele frequency: 2.118018967334036e-2
allele num: 9490
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527697149317119e-5
allele num: 65458
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.346314325452017e-4
allele num: 11504
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.65e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.398e1

DP
type: SiteQuality
SIO_000300: 1.597346e6

GenotypeQuality
all individuals: 388
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 282
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 180
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GenotypeQuality
all individuals: 1461
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

South Asian
type: Population
allele count: 33
allele frequency: 2.007543496775763e-3
allele num: 16438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9344
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65016
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

FS
type: SiteQuality
SIO_000300: 7.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

QD
type: SiteQuality
SIO_000300: 1.256e1

DP
type: SiteQuality
SIO_000300: 1.575693e6

MQRankSum
type: SiteQuality
SIO_000300: -2.42e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 292
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variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.087168249330411e-5
allele num: 16428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9338
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.351281448389372e-4
allele num: 8506
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

VQSLOD
type: SiteQuality
SIO_000300: -1.116e-1

FS
type: SiteQuality
SIO_000300: 6.577e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

DP
type: SiteQuality
SIO_000300: 1.568401e6

QD
type: SiteQuality
SIO_000300: 1.012e1

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 45
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GenotypeQuality
all individuals: 408
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variant carriers: 0

GenotypeQuality
all individuals: 292
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GenotypeQuality
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GenotypeQuality
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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: 269
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GenotypeQuality
all individuals: 79
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GenotypeQuality
all individuals: 612
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GenotypeQuality
all individuals: 7511
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GenotypeQuality
all individuals: 43334
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GenotypeQuality
all individuals: 573
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variant carriers: 1

GenotypeQuality
all individuals: 182
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

African
type: Population
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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 (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64822
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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Other
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allele frequency: 1.146788990825688e-3
allele num: 872
num of homozygotes: 0

QD
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BaseQRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

VQSLOD
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DP
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SIO_000300: 1.56475e6

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele frequency: 0.0e0
allele num: 872
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: 1
allele frequency: 1.544878727019929e-5
allele num: 64730
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9304
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16398
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

FS
type: SiteQuality
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QD
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DP
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ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 1.0e-3

BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9126
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11190
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16250
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.569365976145637e-5
allele num: 63720
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
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MQ
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VQSLOD
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DP
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InbreedingCoeff
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SIO_000300: -9.0e-4

ReadPosRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5850
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16076
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62722
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.115822361080116e-4
allele num: 8962
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10970
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 6.769e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.304e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.474268e6

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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GenotypeQuality
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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: 8708
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7958
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.885369532428356e-4
allele num: 10608
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61358
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5650
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.02e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.991e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.95e-1

BaseQRankSum
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SIO_000300: -1.107e1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.29e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 9800
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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7334
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5162
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.900120752113163e-5
allele num: 57970
num of homozygotes: 0

VQSLOD
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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QD
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 5.291938613512083e-5
allele num: 56690
num of homozygotes: 0

South Asian
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African
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allele frequency: 3.75751503006012e-4
allele num: 7984
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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allele num: 7102
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Other
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MQ
type: SiteQuality
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MQRankSum
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QD
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ReadPosRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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FS
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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African
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European (Non-Finnish)
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Other
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VQSLOD
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MQ
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 6980
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5280
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.201673271686482e-5
allele num: 45420
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
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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SIO_000300: 6.78e-1

QD
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.05426e5

GenotypeQuality
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6872
num of homozygotes: 0

European (Non-Finnish)
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allele count: 11
allele frequency: 2.447925939113406e-4
allele num: 44936
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 2.705627705627706e-4
allele num: 3696
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
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allele count: 0
allele frequency: 0.0e0
allele num: 5212
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.34e-1

VQSLOD
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MQRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

DP
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QD
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4458
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12626
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5836
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.536912070627632e-5
allele num: 39418
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5514
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3136
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 1.1847e1

QD
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MQRankSum
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BaseQRankSum
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SIO_000300: -3.94e-1

InbreedingCoeff
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SIO_000300: -1.24e-2

VQSLOD
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ReadPosRankSum
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SIO_000300: -2.64e-1

DP
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12352
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: 540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.654068687297627e-5
allele num: 37678
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.838771593090211e-4
allele num: 5210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4162
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.372e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.691e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 7.40054e5

FS
type: SiteQuality
SIO_000300: 1.016e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 2.540650406504065e-4
allele num: 3936
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4180
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
allele num: 2254
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 31276
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.172e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

FS
type: SiteQuality
SIO_000300: 5.845e0

DP
type: SiteQuality
SIO_000300: 6.5249e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

Latino
type: Population
allele count: 0
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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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 6.39467962655071e-5
allele num: 31276
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East Asian
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European (Finnish)
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allele num: 2254
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QD
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VQSLOD
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ClippingRankSum
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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 3448
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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Other
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East Asian
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele frequency: 3.444237790177034e-5
allele num: 29034
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FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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Other
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East Asian
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InbreedingCoeff
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MQ
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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DP
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BaseQRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
type: Population
allele count: 0
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num of homozygotes: 0

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

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 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: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.11515e5

MQ
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SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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SIO_000300: 1.38e0

QD
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VQSLOD
type: SiteQuality
SIO_000300: -7.027e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0.0e0
allele num: 26790
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 2874
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10556
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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num of homozygotes: 0

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

Other
type: Population
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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 (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: 3.924030764401193e-5
allele num: 25484
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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QD
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ReadPosRankSum
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VQSLOD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
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: 1
allele frequency: 4.273504273504274e-4
allele num: 2340
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
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allele count: 0
allele frequency: 0.0e0
allele num: 1996
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1592
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.91e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

QD
type: SiteQuality
SIO_000300: 9.029999999999999e0

DP
type: SiteQuality
SIO_000300: 5.56944e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.453e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 336
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

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
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QD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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VQSLOD
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FS
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1774
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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FS
type: SiteQuality
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ClippingRankSum
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QD
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MQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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Latino
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Other
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South Asian
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European (Non-Finnish)
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allele num: 19896
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DP
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MQ
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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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African
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Latino
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European (Finnish)
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East Asian
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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FS
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QD
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DP
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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African
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Other
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14222
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.399445e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.683e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.43e-1

QD
type: SiteQuality
SIO_000300: 5.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9678
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.753501400560224e-5
allele num: 11424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14296
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.419098e6

MQRankSum
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SIO_000300: -1.631e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

VQSLOD
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BaseQRankSum
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SIO_000300: 3.33e0

QD
type: SiteQuality
SIO_000300: 1.595e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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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
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65412
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.032204789430223e-4
allele num: 9688
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.447522e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

QD
type: SiteQuality
SIO_000300: 1.308e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.488e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529005229197884e-5
allele num: 65402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14350
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

DP
type: SiteQuality
SIO_000300: 1.452873e6

FS
type: SiteQuality
SIO_000300: 3.227e0

MQ
type: SiteQuality
SIO_000300: 5.551e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.356e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

QD
type: SiteQuality
SIO_000300: 1.644e1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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
all individuals: 988
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14510
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526904049349539e-5
allele num: 65492
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.12e-1

QD
type: SiteQuality
SIO_000300: 1.14e1

DP
type: SiteQuality
SIO_000300: 1.463876e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.459113809585325e-5
allele num: 15482
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66214
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.915e1

FS
type: SiteQuality
SIO_000300: 1.966e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.704e0

DP
type: SiteQuality
SIO_000300: 1.514525e6

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 9.44e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15498
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.529942922719173e-5
allele num: 66226
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.998e1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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DP
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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QD
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SIO_000300: 1.304e1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

South Asian
type: Population
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allele frequency: 6.40861317610869e-5
allele num: 15604
num of homozygotes: 0

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

African
type: Population
allele count: 0
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

Latino
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: 2
allele frequency: 3.018503426001389e-5
allele num: 66258
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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FS
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BaseQRankSum
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VQSLOD
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QD
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MQ
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ClippingRankSum
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MQRankSum
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DP
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15648
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66296
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.024590163934426e-4
allele num: 9760
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.817e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.051e0

FS
type: SiteQuality
SIO_000300: 1.074e0

DP
type: SiteQuality
SIO_000300: 1.51873e6

MQRankSum
type: SiteQuality
SIO_000300: -1.123e0

VQSLOD
type: SiteQuality
SIO_000300: 2.39e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e-1

GenotypeQuality
all individuals: 48324
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 542
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1351
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7887
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16008
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.409e1

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

DP
type: SiteQuality
SIO_000300: 1.52773e6

FS
type: SiteQuality
SIO_000300: 2.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.55e-1

GenotypeQuality
all individuals: 1345
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7886
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 283
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48386
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16078
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504664459825459e-5
allele num: 66460
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.048e0

MQ
type: SiteQuality
SIO_000300: 5.853e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

DP
type: SiteQuality
SIO_000300: 1.530016e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.085e0

MQRankSum
type: SiteQuality
SIO_000300: -9.95e-1

QD
type: SiteQuality
SIO_000300: 1.003e1

FS
type: SiteQuality
SIO_000300: 1.043e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.75e1
variant carriers: 4

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

GenotypeQuality
all individuals: 129
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48655
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.508430765531544e-5
allele num: 66542
num of homozygotes: 0