4-56230378-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56230378
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56230378
    reference: chr 4
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.289+4723G>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.1377C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.502G>C
  hgvsp: ENSP00000264228.4:p.Val168Leu
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.511G>C
  variant of: http://identifiers.org/hgnc/25812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29861
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val168Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

4-56230382-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56230382
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56230382
    reference: chr 4
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.289+4727A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.1373T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.506A>G
  hgvsp: ENSP00000264228.4:p.Tyr169Cys
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.515A>G
  variant of: http://identifiers.org/hgnc/25812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11922
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8822
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3380
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr169Cys
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

4-56230384-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56230384
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56230384
    reference: chr 4
allele count: 8
allele frequency: 6.589568712727751e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.289+4729T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.517T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.508T>C
  hgvsp: ENSP00000264228.4:p.Tyr170His
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.1371A>G
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2589
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genotype quality: GenotypeQuality
  all individuals: 11919
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  variant carriers: 8
hgvs: p.Tyr170His
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

4-56230392-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56230392
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56230392
    reference: chr 4
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.1363A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.516T>C
  hgvsp: ENST00000264228.4:c.516T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.289+4737T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.525T>C
  variant of: http://identifiers.org/hgnc/25812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11911
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1216
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3377
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8822
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu172Leu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

4-56230393-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56230393
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56230393
    reference: chr 4
allele count: 7
allele frequency: 5.765872623636783e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.289+4738G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.1362C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.517G>A
  hgvsp: ENSP00000264228.4:p.Val173Ile
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.526G>A
  variant of: http://identifiers.org/hgnc/25812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29880
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11910
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8821
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val173Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-56230423-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56230423
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56230423
    reference: chr 4
allele count: 7
allele frequency: 5.767677932864229e-5
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.1332T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.547A>G
  hgvsp: ENSP00000264228.4:p.Met183Val
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.556A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.289+4768A>G
  variant of: http://identifiers.org/hgnc/25812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2055
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met183Val
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

4-56230426-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56230426
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56230426
    reference: chr 4
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.289+4771G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.550G>A
  hgvsp: ENSP00000264228.4:p.Asp184Asn
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.559G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.1329C>T
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
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genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
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genotype quality: GenotypeQuality
  all individuals: 826
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp184Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

4-56230430-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56230430
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56230430
    reference: chr 4
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.289+4775G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.1325C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.554G>A
  hgvsp: ENSP00000264228.4:p.Gly185Asp
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.563G>A
  variant of: http://identifiers.org/hgnc/25812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 28
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3350
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly185Asp
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

4-56230439-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56230439
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56230439
    reference: chr 4
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.562+1G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.571+1G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.289+4784G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.1316C>T
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29777
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
hgvs: c.562+1G>A
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

4-56230440-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56230440
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56230439
    reference: chr 4
allele count: 5
allele frequency: 4.122147473948028e-5
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.571+3delG
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.289+4786delG
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.562+3delG
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.1314delC
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 8.75e1
  variant carriers: 0
hgvs: c.562+3delG
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: TG
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

4-56230457-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56230457
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56230457
    reference: chr 4
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.289+4802G>T
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.562+19G>T
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.1298C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.571+19G>T
  variant of: http://identifiers.org/hgnc/25812
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11830
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7981
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

4-56230468-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56230468
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56230468
    reference: chr 4
allele count: 1
allele frequency: 8.26801600687899e-6
allele num: 120948
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.289+4813C>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.562+30C>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.1287G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.571+30C>G
  variant of: http://identifiers.org/hgnc/25812
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18762
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25992
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7314
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/4-56230475-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56230475
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56230475
    reference: chr 4
allele count: 1
allele frequency: 8.278282753025713e-6
allele num: 120798
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.562+37C>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.1280G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.571+37C>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.289+4820C>A
  variant of: http://identifiers.org/hgnc/25812
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6804
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11771
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

4-56230476-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56230476
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56230476
    reference: chr 4
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.1279T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.289+4821A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.562+38A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.571+38A>G
  variant of: http://identifiers.org/hgnc/25812
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

4-56230480-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56230480
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56230480
    reference: chr 4
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.571+42T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.289+4825T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.1275A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.562+42T>C
  variant of: http://identifiers.org/hgnc/25812
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10351
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19930
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

4-56230483-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56230483
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56230483
    reference: chr 4
allele count: 1
allele frequency: 8.292699107705576e-6
allele num: 120588
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.562+45A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.571+45A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.1272T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.289+4828A>G
  variant of: http://identifiers.org/hgnc/25812
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4303
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2964
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

4-56230486-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56230486
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56230486
    reference: chr 4
allele count: 1
allele frequency: 8.316561600771776e-6
allele num: 120242
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.562+48A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.289+4831A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.1269T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.571+48A>G
  variant of: http://identifiers.org/hgnc/25812
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5255
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11765
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12498
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

4-56230488-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56230488
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56230488
    reference: chr 4
allele count: 1
allele frequency: 8.361064196250898e-6
allele num: 119602
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.562+50G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.289+4833G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.1267C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.571+50G>A
  variant of: http://identifiers.org/hgnc/25812
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4219
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11764
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5470
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4339
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS

4-56230489-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56230489
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56230489
    reference: chr 4
allele count: 9
allele frequency: 7.548435796359976e-5
allele num: 119230
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.1266G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.571+51C>T
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.562+51C>T
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.289+4834C>T
  variant of: http://identifiers.org/hgnc/25812
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10890
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8738
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12360
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4378
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11768
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 5452
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4196
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

4-56230490-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56230490
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56230490
    reference: chr 4
allele count: 20
allele frequency: 1.684295627568551e-4
allele num: 118744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.571+52G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.289+4835G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.1265C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.562+52G>A
  variant of: http://identifiers.org/hgnc/25812
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12514
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8701
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7164
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5458
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3876
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11768
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5593
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

4-56233714-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233714
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233714
    reference: chr 4
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-384A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-384A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-384A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-384A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-384A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-384A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-384A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-384A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-384A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-384A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-384A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-384A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-384A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2285T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-384A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.563-41T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-384A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2285T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-384A>G
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-56233715-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233715
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233715
    reference: chr 4
allele count: 22
allele frequency: 1.814552712756306e-4
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-385C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-385C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2284G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-385C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-385C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-385C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.563-40G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-385C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-385C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-385C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-385C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2284G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-385C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-385C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-385C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-385C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-385C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-385C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-385C>T
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9688
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/4-56233725-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233725
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233725
    reference: chr 4
allele count: 2
allele frequency: 1.649348507339601e-5
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.563-30A>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2274A>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-395T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-395T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-395T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-395T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2274A>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-395T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-395T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-395T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-395T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-395T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-395T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-395T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-395T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-395T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-395T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-395T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-395T>G
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

4-56233726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233726
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233726
    reference: chr 4
allele count: 39
allele frequency: 3.216282637021887e-4
allele num: 121258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-396C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-396C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-396C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-396C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.563-29G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-396C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-396C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-396C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2273G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-396C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2273G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-396C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-396C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-396C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-396C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-396C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-396C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-396C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-396C>T
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

4-56233727-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233727
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233727
    reference: chr 4
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2272T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-397A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-397A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-397A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-397A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-397A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-397A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-397A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-397A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-397A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-397A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2272T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-397A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-397A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-397A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-397A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-397A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-397A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.563-28T>C
  variant of: http://identifiers.org/hgnc/25812
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/4-56233739-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233739
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233739
    reference: chr 4
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-409T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-409T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-409T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2260A>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-409T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.563-16A>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-409T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-409T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-409T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2260A>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-409T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-409T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-409T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-409T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-409T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-409T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-409T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-409T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-409T>G
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

4-56233753-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233753
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233753
    reference: chr 4
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-423T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.563-2A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-423T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2246A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-423T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-423T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-423T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-423T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-423T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-423T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-423T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-423T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-423T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-423T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-423T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-423T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-423T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2246A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-423T>C
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7919
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.563-2A>G
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ

4-56233757-TACATAACAGGGAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233757
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233744
    reference: chr 4
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsp: ENSP00000264228.4:p.Tyr189Ter
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9359
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr189Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: TACATAACAGGGAA
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/4-56233758-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233758
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233758
    reference: chr 4
allele count: 45
allele frequency: 3.7087708309295e-4
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-428T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-428T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-428T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-428T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-428T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-428T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.566A>C
  hgvsp: ENSP00000264228.4:p.Tyr189Ser
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-428T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-428T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-428T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-428T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-428T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-428T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-428T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-428T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2241A>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2241A>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-428T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-428T>G
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr189Ser
num of homozygotes: 1
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum

4-56233759-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233759
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233759
    reference: chr 4
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-429G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2240C>T
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-429G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-429G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-429G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-429G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-429G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-429G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-429G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-429G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.567C>T
  hgvsp: ENST00000264228.4:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-429G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-429G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-429G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2240C>T
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-429G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-429G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-429G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-429G>A
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr189Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/4-56233760-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233760
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233760
    reference: chr 4
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2239A>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-430T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.568A>C
  hgvsp: ENSP00000264228.4:p.Ile190Leu
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-430T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-430T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-430T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2239A>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-430T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-430T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-430T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-430T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-430T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-430T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-430T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-430T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-430T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-430T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-430T>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-430T>G
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile190Leu
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP

4-56233760-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233760
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233760
    reference: chr 4
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2239A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-430T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2239A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-430T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-430T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-430T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-430T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.568A>G
  hgvsp: ENSP00000264228.4:p.Ile190Val
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-430T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-430T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-430T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-430T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-430T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-430T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-430T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-430T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-430T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-430T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-430T>C
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile190Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

4-56233775-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233775
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233775
    reference: chr 4
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.583C>G
  hgvsp: ENSP00000264228.4:p.Leu195Val
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-445G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-445G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-445G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-445G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-445G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-445G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-445G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-445G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-445G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-445G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-445G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2224C>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-445G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-445G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-445G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-445G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2224C>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-445G>C
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu195Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

4-56233778-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233778
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233778
    reference: chr 4
allele count: 4
allele frequency: 3.295870274545994e-5
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.586T>C
  hgvsp: ENST00000264228.4:c.586T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2221T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-448A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-448A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-448A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-448A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-448A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-448A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-448A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2221T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-448A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-448A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-448A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-448A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-448A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-448A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-448A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-448A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-448A>G
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu196Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

4-56233779-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233779
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233779
    reference: chr 4
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.587T>C
  hgvsp: ENSP00000264228.4:p.Leu196Ser
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-449A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-449A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-449A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-449A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-449A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-449A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-449A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-449A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-449A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-449A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2220T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-449A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-449A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-449A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-449A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2220T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-449A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-449A>G
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu196Ser
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

4-56233783-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233783
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233783
    reference: chr 4
allele count: 8
allele frequency: 6.591631923273405e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-453C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-453C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-453C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-453C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-453C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2216G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-453C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.591G>A
  hgvsp: ENSP00000264228.4:p.Met197Ile
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-453C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-453C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2216G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-453C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-453C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-453C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-453C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-453C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-453C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-453C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-453C>T
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Met197Ile
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: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

4-56233787-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233787
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233787
    reference: chr 4
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-457C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-457C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-457C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-457C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-457C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-457C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.595G>A
  hgvsp: ENSP00000264228.4:p.Ala199Thr
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-457C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-457C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-457C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-457C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-457C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2212G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-457C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-457C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-457C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-457C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2212G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-457C>T
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala199Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-56233790-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233790
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233790
    reference: chr 4
allele count: 3
allele frequency: 2.471658317954126e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-460G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-460G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-460G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-460G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-460G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-460G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-460G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.598C>T
  hgvsp: ENSP00000264228.4:p.Arg200Trp
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-460G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-460G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-460G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-460G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-460G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-460G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-460G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2209C>T
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-460G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2209C>T
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-460G>A
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7918
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg200Trp
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

4-56233795-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233795
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233795
    reference: chr 4
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-465C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2204G>T
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-465C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-465C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-465C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-465C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-465C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.603G>T
  hgvsp: ENSP00000264228.4:p.Trp201Cys
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2204G>T
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-465C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-465C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-465C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-465C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-465C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-465C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-465C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-465C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-465C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-465C>A
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7919
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp201Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-56233809-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233809
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233809
    reference: chr 4
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-479C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-479C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-479C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-479C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-479C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2190G>T
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.617G>T
  hgvsp: ENSP00000264228.4:p.Gly206Val
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-479C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-479C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-479C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-479C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-479C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-479C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-479C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-479C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-479C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-479C>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2190G>T
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-479C>A
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7918
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly206Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

4-56233815-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233815
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233815
    reference: chr 4
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-485A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-485A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-485A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-485A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-485A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.623T>C
  hgvsp: ENSP00000264228.4:p.Met208Thr
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-485A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-485A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-485A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-485A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-485A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-485A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-485A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-485A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-485A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2184T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-485A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2184T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-485A>G
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met208Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

4-56233819-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233819
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233819
    reference: chr 4
allele count: 37
allele frequency: 3.048077239924869e-4
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2180G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-489C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-489C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-489C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-489C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-489C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-489C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-489C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-489C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-489C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.627G>A
  hgvsp: ENSP00000264228.4:p.Met209Ile
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2180G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-489C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-489C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-489C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-489C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-489C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-489C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-489C>T
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met209Ile
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

4-56233825-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233825
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233825
    reference: chr 4
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-495G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-495G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-495G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-495G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2174C>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-495G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-495G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-495G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-495G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.633C>G
  hgvsp: ENSP00000264228.4:p.Ile211Met
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-495G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-495G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-495G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-495G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-495G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-495G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-495G>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2174C>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-495G>C
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile211Met
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD

4-56233834-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233834
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233834
    reference: chr 4
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2165T>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-504A>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-504A>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-504A>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.642T>A
  hgvsp: ENST00000264228.4:c.642T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-504A>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-504A>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-504A>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-504A>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-504A>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-504A>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-504A>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-504A>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-504A>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-504A>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2165T>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-504A>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-504A>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-504A>T
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7914
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser214Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

4-56233835-GCCCATCAGTATAAGTGCCATGTTATT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233835
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233809
    reference: chr 4
allele count: 16
allele frequency: 1.317935454111135e-4
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsp: ENSP00000264228.4:p.His216ArgfsTer7
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 9359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His216ArgfsTer7
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GCCCATCAGTATAAGTGCCATGTTATT
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/4-56233836-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233836
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233836
    reference: chr 4
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-506G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-506G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-506G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-506G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-506G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-506G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.644C>A
  hgvsp: ENSP00000264228.4:p.Ala215Asp
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-506G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-506G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-506G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-506G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-506G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2163C>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-506G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-506G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2163C>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-506G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-506G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-506G>T
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala215Asp
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/4-56233841-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233841
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233841
    reference: chr 4
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-511G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-511G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-511G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-511G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-511G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.649C>A
  hgvsp: ENSP00000264228.4:p.Gln217Lys
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-511G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-511G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-511G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-511G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-511G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2158C>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-511G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-511G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-511G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-511G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2158C>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-511G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-511G>T
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln217Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

4-56233845-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233845
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233845
    reference: chr 4
allele count: 3
allele frequency: 2.47133254250692e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-515T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2154A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-515T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-515T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-515T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-515T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-515T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-515T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-515T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.653A>G
  hgvsp: ENSP00000264228.4:p.Tyr218Cys
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-515T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-515T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-515T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-515T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-515T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2154A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-515T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-515T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-515T>C
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr218Cys
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

4-56233849-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233849
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233849
    reference: chr 4
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2150G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-519C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2150G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-519C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-519C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-519C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-519C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.657G>A
  hgvsp: ENST00000264228.4:c.657G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-519C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-519C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-519C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-519C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-519C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-519C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-519C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-519C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-519C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-519C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-519C>T
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys219Lys
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff

4-56233851-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233851
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233851
    reference: chr 4
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-521C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-521C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-521C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-521C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-521C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-521C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-521C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2148G>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2148G>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.659G>C
  hgvsp: ENSP00000264228.4:p.Cys220Ser
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-521C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-521C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-521C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-521C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-521C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-521C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-521C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-521C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-521C>G
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys220Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

4-56233854-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233854
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233854
    reference: chr 4
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-524T>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-524T>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-524T>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-524T>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-524T>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-524T>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-524T>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.662A>T
  hgvsp: ENSP00000264228.4:p.His221Leu
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-524T>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-524T>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-524T>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-524T>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-524T>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2145A>T
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-524T>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-524T>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-524T>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-524T>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2145A>T
  variant of: http://identifiers.org/hgnc/25812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His221Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

4-56233864-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233864
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233864
    reference: chr 4
allele count: 27
allele frequency: 2.224052718286656e-4
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-534G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-534G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-534G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-534G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-534G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-534G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-534G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-534G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2135C>T
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.672C>T
  hgvsp: ENST00000264228.4:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-534G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-534G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-534G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-534G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-534G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-534G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2135C>T
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-534G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-534G>A
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9362
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu224Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

4-56233865-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233865
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233865
    reference: chr 4
allele count: 6
allele frequency: 4.942339373970346e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-535C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-535C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-535C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2134G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-535C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-535C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-535C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-535C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.673G>A
  hgvsp: ENSP00000264228.4:p.Gly225Ser
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-535C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-535C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-535C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-535C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-535C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-535C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2134G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-535C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-535C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-535C>T
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly225Ser
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: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

4-56233865-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233865
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233865
    reference: chr 4
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-535C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-535C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.673G>C
  hgvsp: ENSP00000264228.4:p.Gly225Arg
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-535C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-535C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-535C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-535C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-535C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-535C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-535C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-535C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-535C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2134G>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-535C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-535C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-535C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-535C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-535C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2134G>C
  variant of: http://identifiers.org/hgnc/25812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly225Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

4-56233869-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233869
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233869
    reference: chr 4
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-539T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-539T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2130A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.677A>G
  hgvsp: ENSP00000264228.4:p.Asn226Ser
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-539T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-539T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-539T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-539T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-539T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-539T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-539T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-539T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-539T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-539T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-539T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2130A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-539T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-539T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-539T>C
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Asn226Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

4-56233871-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233871
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233871
    reference: chr 4
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-541G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-541G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-541G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-541G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-541G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-541G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-541G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-541G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-541G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-541G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-541G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-541G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.679C>T
  hgvsp: ENSP00000264228.4:p.Leu227Phe
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-541G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-541G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-541G>A
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2128C>T
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2128C>T
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-541G>A
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu227Phe
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ

4-56233874-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233874
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233874
    reference: chr 4
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-544T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-544T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-544T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.682A>G
  hgvsp: ENSP00000264228.4:p.Arg228Gly
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-544T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-544T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-544T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-544T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-544T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-544T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-544T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-544T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-544T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2125A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-544T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-544T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-544T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2125A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-544T>C
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg228Gly
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

4-56233878-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233878
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233878
    reference: chr 4
allele count: 5
allele frequency: 4.118412599047823e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2121A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-548T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-548T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-548T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-548T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-548T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-548T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-548T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-548T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-548T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-548T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.686A>G
  hgvsp: ENSP00000264228.4:p.Lys229Arg
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-548T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-548T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-548T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2121A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-548T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-548T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-548T>C
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys229Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

4-56233881-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233881
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233881
    reference: chr 4
allele count: 3
allele frequency: 2.471088267272907e-5
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-551T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-551T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-551T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-551T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-551T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.689A>G
  hgvsp: ENSP00000264228.4:p.Asn230Ser
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-551T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2118A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-551T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-551T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-551T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-551T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-551T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2118A>G
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-551T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-551T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-551T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-551T>C
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-551T>C
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn230Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/4-56233887-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233887
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233887
    reference: chr 4
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-557G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-557G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-557G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-557G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.695C>A
  hgvsp: ENSP00000264228.4:p.Ala232Glu
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2112C>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-557G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-557G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-557G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-557G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-557G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-557G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-557G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-557G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-557G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-557G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-557G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-557G>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2112C>A
  variant of: http://identifiers.org/hgnc/25812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala232Glu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

4-56233892-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233892
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233892
    reference: chr 4
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-562C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.697+3G>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-562C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-562C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-562C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-562C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-562C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-562C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2107G>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-562C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-562C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-562C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-562C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-562C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-562C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-562C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-562C>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2107G>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-562C>G
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.697+3G>C
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

4-56233894-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233894
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233894
    reference: chr 4
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-564C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-564C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-564C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-564C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-564C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-564C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2105G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2105G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-564C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-564C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.697+5G>A
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-564C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-564C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-564C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-564C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-564C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-564C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-564C>T
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-564C>T
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.697+5G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

4-56233900-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233900
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233900
    reference: chr 4
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-570A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-570A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-570A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-570A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-570A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-570A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2099T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-570A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-570A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-570A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-570A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2099T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-570A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-570A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-570A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-570A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-570A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-570A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.697+11T>C
  variant of: http://identifiers.org/hgnc/25812
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ

4-56233902-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233902
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233902
    reference: chr 4
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2097T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-572A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-572A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-572A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-572A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-572A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-572A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2097T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.697+13T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-572A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-572A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-572A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-572A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-572A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-572A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-572A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-572A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-572A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-572A>G
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7915
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

4-56233903-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56233903
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 56233903
    reference: chr 4
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000433175
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000433175.2:n.269-573A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609487
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609487.1:n.573-573A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000510637
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000510637.1:n.364-573A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000264228
  ensembl transcript: ENST00000264228
  gene symbol: SRD5A3
  hgvsc: ENST00000264228.4:c.697+14T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608086
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608086.1:n.605-573A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609580
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609580.1:n.590-573A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609700
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609700.1:n.463-573A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596312
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596312.1:n.581-573A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl transcript: ENST00000514398
  gene symbol: SRD5A3
  hgvsc: ENST00000514398.1:n.572-2096T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000596289
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000596289.1:n.676-573A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128039
  ensembl protein: ENSP00000424714
  ensembl transcript: ENST00000505210
  gene symbol: SRD5A3
  hgvsc: ENST00000505210.1:c.290-2096T>C
  variant of: http://identifiers.org/hgnc/25812
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595734
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595734.1:n.676-573A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609051
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609051.1:n.674-573A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609500
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609500.1:n.441-573A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000609573
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000609573.1:n.695-573A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000598906
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000598906.1:n.568-573A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608558
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608558.1:n.567-573A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000608265
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000608265.1:n.598-573A>G
  variant of: http://identifiers.org/hgnc/44138
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249700
  ensembl transcript: ENST00000595103
  gene symbol: SRD5A3-AS1
  hgvsc: ENST00000595103.1:n.465-573A>G
  variant of: http://identifiers.org/hgnc/44138
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9883
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11924
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8821
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.260201e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

QD
type: SiteQuality
SIO_000300: 1.425e1

GenotypeQuality
all individuals: 2589
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29870
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 2.260063e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.476e0

QD
type: SiteQuality
SIO_000300: 1.436e1

MQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 3379
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 8
allele frequency: 9.246417013407304e-4
allele num: 8652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.116e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 2.259822e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.78e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 29878
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2588
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.891e0

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.259176e6

GenotypeQuality
all individuals: 1216
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.048038707447727e-4
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.259117e6

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

MQ
type: SiteQuality
SIO_000300: 5.985e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.648e0

FS
type: SiteQuality
SIO_000300: 2.494e0

QD
type: SiteQuality
SIO_000300: 1.147e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.21e-1

GenotypeQuality
all individuals: 29886
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8766
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GenotypeQuality
all individuals: 11895
bin: 9.75e1
variant carriers: 7

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.494678778067572e-5
allele num: 66714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.024803387779795e-4
allele num: 6612
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.447e1

DP
type: SiteQuality
SIO_000300: 2.257014e6

MQRankSum
type: SiteQuality
SIO_000300: -2.21e-1

FS
type: SiteQuality
SIO_000300: 1.286e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.98e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.579e0

QD
type: SiteQuality
SIO_000300: 1.29e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e0

FS
type: SiteQuality
SIO_000300: 2.868e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

DP
type: SiteQuality
SIO_000300: 2.256003e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.29e-1

FS
type: SiteQuality
SIO_000300: 1.939e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.982e0

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 1.206e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

DP
type: SiteQuality
SIO_000300: 2.254863e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.87e0

DP
type: SiteQuality
SIO_000300: 2.250742e6

QD
type: SiteQuality
SIO_000300: 9.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3321
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.497825630567136e-5
allele num: 66686
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

QD
type: SiteQuality
SIO_000300: 1.463e1

DP
type: SiteQuality
SIO_000300: 2.249945e6

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.274e0

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.076e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 5.899e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 8.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 9.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.477e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.647e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 5.84e1

FS
type: SiteQuality
SIO_000300: 3.34e0

VQSLOD
type: SiteQuality
SIO_000300: -2.936e0

QD
type: SiteQuality
SIO_000300: 1.196e1

DP
type: SiteQuality
SIO_000300: 2.212374e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2188
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1802
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
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: 16468
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.162993e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.377e1

FS
type: SiteQuality
SIO_000300: 6.226e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505615947484116e-5
allele num: 66418
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.125975e6

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.476e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66428
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.646922631680494e-5
allele num: 10366
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.013e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.075e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.924e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506250941406838e-5
allele num: 66390
num of homozygotes: 0

African
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.711e0

FS
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.021e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66326
num of homozygotes: 0

South Asian
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allele frequency: 6.087909411907951e-5
allele num: 16426
num of homozygotes: 0

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

GenotypeQuality
all individuals: 172
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GenotypeQuality
all individuals: 4917
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
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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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e-1

BaseQRankSum
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SIO_000300: 3.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.73e-1

DP
type: SiteQuality
SIO_000300: 2.043747e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11268
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.938e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.249e1

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

DP
type: SiteQuality
SIO_000300: 2.028973e6

FS
type: SiteQuality
SIO_000300: 3.114e0

GenotypeQuality
all individuals: 5805
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variant carriers: 0

GenotypeQuality
all individuals: 8129
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65614
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

East Asian
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allele count: 9
allele frequency: 1.065845570819517e-3
allele num: 8444
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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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DP
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SIO_000300: 2.028208e6

MQRankSum
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ClippingRankSum
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SIO_000300: 6.8e-2

QD
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InbreedingCoeff
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SIO_000300: -1.0e-3

BaseQRankSum
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SIO_000300: 2.32e0

FS
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 11
allele frequency: 6.7559267903206e-4
allele num: 16282
num of homozygotes: 1

East Asian
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allele count: 1
allele frequency: 1.191327138432213e-4
allele num: 8394
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.75609756097561e-5
allele num: 10250
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.656029889140688e-5
allele num: 65308
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.792757260666906e-4
allele num: 11156
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.024048e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 3.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQ
type: SiteQuality
SIO_000300: 5.99e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.897e0

QD
type: SiteQuality
SIO_000300: 1.348e1

GenotypeDepth
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variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-1

BaseQRankSum
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SIO_000300: 3.96e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

DP
type: SiteQuality
SIO_000300: 2.707506e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 3

GenotypeDepth
all individuals: 434
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 7910
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variant carriers: 6

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 9331
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variant carriers: 3

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 22

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4080
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

Latino
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allele count: 22
allele frequency: 1.903114186851211e-3
allele num: 11560
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

ClippingRankSum
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SIO_000300: -3.33e-1

DP
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 9.900000000000001e-3

FS
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MQRankSum
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BaseQRankSum
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SIO_000300: -3.911e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.256e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 2
allele frequency: 1.21256214380987e-4
allele num: 16494
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66666
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
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

Other
type: Population
allele count: 0
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African
type: Population
allele count: 37
allele frequency: 3.56386052783664e-3
allele num: 10382
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.53e-1

ClippingRankSum
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SIO_000300: -2.9e-2

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

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

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

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

Other
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num of homozygotes: 0

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

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

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

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

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

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

East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
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South 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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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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

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

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

Latino
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allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
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allele num: 66728
num of homozygotes: 0

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

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

East Asian
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South Asian
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Other
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FS
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 2.402460119162022e-3
allele num: 10406
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South Asian
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European (Non-Finnish)
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Other
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Latino
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East Asian
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allele num: 8654
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European (Finnish)
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ClippingRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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DP
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MQ
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 6
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allele num: 66734
num of homozygotes: 0

African
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num of homozygotes: 0

South Asian
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allele count: 0
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MQ
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SIO_000300: 5.957e1

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

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

European (Non-Finnish)
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European (Finnish)
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African
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Latino
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Other
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South Asian
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VQSLOD
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FS
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DP
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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MQRankSum
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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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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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQ
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FS
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MQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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DP
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VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
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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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Other
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Latino
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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QD
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FS
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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East Asian
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African
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South Asian
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.439e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.976e0

DP
type: SiteQuality
SIO_000300: 2.720455e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 439
bin: 9.25e1
variant carriers: 0

GenotypeDepth
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bin: 9.75e1
variant carriers: 1

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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bin: 7.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2464
bin: 5.75e1
variant carriers: 0

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.135e1

MQRankSum
type: SiteQuality
SIO_000300: 7.45e-1

DP
type: SiteQuality
SIO_000300: 2.720346e6

InbreedingCoeff
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SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.422e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.546e0

FS
type: SiteQuality
SIO_000300: 3.771e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.998e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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bin: 9.75e1
variant carriers: 0

GenotypeDepth
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bin: 5.75e1
variant carriers: 0

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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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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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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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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: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
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: 11572
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.72e-1

QD
type: SiteQuality
SIO_000300: 1.167e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
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SIO_000300: 2.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

DP
type: SiteQuality
SIO_000300: 2.719994e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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variant carriers: 1

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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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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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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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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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

VQSLOD
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SIO_000300: 1.57e0

QD
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ClippingRankSum
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MQRankSum
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DP
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ReadPosRankSum
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FS
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SIO_000300: 9.31e-1

BaseQRankSum
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InbreedingCoeff
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SIO_000300: 1.3e-3

MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0