17-48245322-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245322
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245322
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.172T>C
  hgvsp: ENSP00000422817.1:p.Ser58Pro
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.327T>C
  hgvsp: ENST00000513821.1:c.327T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.162T>C
  hgvsp: ENSP00000426606.1:p.Ser55Pro
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.118T>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.48T>C
  hgvsp: ENST00000511303.1:c.48T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.327T>C
  hgvsp: ENST00000344627.6:c.327T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.327T>C
  hgvsp: ENST00000543315.1:c.327T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.327T>C
  hgvsp: ENST00000262018.3:c.327T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*33T>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.21T>C
  hgvsp: ENST00000451235.2:c.21T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser55Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

17-48245323-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245323
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245323
    reference: chr 17
allele count: 13
allele frequency: 1.070998994908636e-4
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.328C>T
  hgvsp: ENSP00000444539.1:p.Arg110Trp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.173C>T
  hgvsp: ENSP00000422817.1:p.Ser58Leu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.22C>T
  hgvsp: ENSP00000390371.2:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.328C>T
  hgvsp: ENSP00000262018.3:p.Arg110Trp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.328C>T
  hgvsp: ENSP00000345522.6:p.Arg110Trp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.328C>T
  hgvsp: ENSP00000426571.1:p.Arg110Trp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.163C>T
  hgvsp: ENSP00000426606.1:p.Ser55Leu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*34C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.49C>T
  hgvsp: ENSP00000426104.1:p.Arg17Trp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.119C>T
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg110Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-48245324-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245324
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245324
    reference: chr 17
allele count: 119
allele frequency: 9.803921568627451e-4
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.329G>A
  hgvsp: ENSP00000444539.1:p.Arg110Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.329G>A
  hgvsp: ENSP00000262018.3:p.Arg110Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.174G>A
  hgvsp: ENST00000502555.1:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.23G>A
  hgvsp: ENSP00000390371.2:p.Arg8Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.164G>A
  hgvsp: ENST00000512526.1:c.164G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.50G>A
  hgvsp: ENSP00000426104.1:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.329G>A
  hgvsp: ENSP00000345522.6:p.Arg110Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.329G>A
  hgvsp: ENSP00000426571.1:p.Arg110Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.120G>A
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 9.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 9637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9547
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg110Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

17-48245336-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245336
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245336
    reference: chr 17
allele count: 3
allele frequency: 2.471658317954126e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.341A>T
  hgvsp: ENSP00000444539.1:p.Asp114Val
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.341A>T
  hgvsp: ENSP00000426571.1:p.Asp114Val
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*47A>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.341A>T
  hgvsp: ENSP00000262018.3:p.Asp114Val
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.35A>T
  hgvsp: ENSP00000390371.2:p.Asp12Val
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.132A>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.186A>T
  hgvsp: ENSP00000422817.1:p.Ter62CysextTer76
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.341A>T
  hgvsp: ENSP00000345522.6:p.Asp114Val
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.176A>T
  hgvsp: ENSP00000426606.1:p.Ter59CysextTer76
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.62A>T
  hgvsp: ENSP00000426104.1:p.Asp21Val
  variant of: http://identifiers.org/hgnc/10805
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4046
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ter59CysextTer76
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

17-48245338-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245338
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245338
    reference: chr 17
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*49A>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.343A>G
  hgvsp: ENSP00000426571.1:p.Thr115Ala
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.37A>G
  hgvsp: ENSP00000390371.2:p.Thr13Ala
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.64A>G
  hgvsp: ENSP00000426104.1:p.Thr22Ala
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.343A>G
  hgvsp: ENSP00000444539.1:p.Thr115Ala
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.343A>G
  hgvsp: ENSP00000345522.6:p.Thr115Ala
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*2A>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.343A>G
  hgvsp: ENSP00000262018.3:p.Thr115Ala
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.134A>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*2A>G
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr115Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

17-48245341-A-ACTCGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245341
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245346
    reference: chr 17
allele count: 13
allele frequency: 1.071104885886133e-4
allele num: 121370
alternate allele: ACTCGG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.42_46dupTCGGC
  hgvsp: ENSP00000390371.2:p.Gln16LeufsTer95
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*7_*11dupTCGGC
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*7_*11dupTCGGC
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.348_352dupTCGGC
  hgvsp: ENSP00000426571.1:p.Gln118LeufsTer95
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*54_*58dupTCGGC
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.69_73dupTCGGC
  hgvsp: ENSP00000426104.1:p.Gln25LeufsTer81
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.348_352dupTCGGC
  hgvsp: ENSP00000444539.1:p.Gln118LeufsTer177
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.348_352dupTCGGC
  hgvsp: ENSP00000345522.6:p.Gln118LeufsTer81
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.348_352dupTCGGC
  hgvsp: ENSP00000262018.3:p.Gln118LeufsTer95
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.139_143dupTCGGC
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln118LeufsTer95
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

17-48245344-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245344
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245344
    reference: chr 17
allele count: 4
allele frequency: 3.295870274545994e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.349C>T
  hgvsp: ENSP00000262018.3:p.Arg117Trp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.349C>T
  hgvsp: ENSP00000426571.1:p.Arg117Trp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.43C>T
  hgvsp: ENSP00000390371.2:p.Arg15Trp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.349C>T
  hgvsp: ENSP00000444539.1:p.Arg117Trp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.349C>T
  hgvsp: ENSP00000345522.6:p.Arg117Trp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.70C>T
  hgvsp: ENSP00000426104.1:p.Arg24Trp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*55C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.140C>T
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg117Trp
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-48245345-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245345
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245345
    reference: chr 17
allele count: 8
allele frequency: 6.591849178490796e-5
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.350G>A
  hgvsp: ENSP00000444539.1:p.Arg117Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.350G>A
  hgvsp: ENSP00000262018.3:p.Arg117Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.71G>A
  hgvsp: ENSP00000426104.1:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*9G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*9G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.141G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*56G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.350G>A
  hgvsp: ENSP00000426571.1:p.Arg117Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.44G>A
  hgvsp: ENSP00000390371.2:p.Arg15Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.350G>A
  hgvsp: ENSP00000345522.6:p.Arg117Gln
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg117Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

17-48245349-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245349
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245349
    reference: chr 17
allele count: 4
allele frequency: 3.295978905735003e-5
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.354G>A
  hgvsp: ENST00000513821.1:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.354G>A
  hgvsp: ENST00000262018.3:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.354G>A
  hgvsp: ENST00000543315.1:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.48G>A
  hgvsp: ENST00000451235.2:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.145G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.354G>A
  hgvsp: ENST00000344627.6:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*13G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.75G>A
  hgvsp: ENST00000511303.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*60G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*13G>A
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln118Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-48245357-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245357
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245357
    reference: chr 17
allele count: 155
allele frequency: 1.289538927436397e-3
allele num: 120198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*68T>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.362T>G
  hgvsp: ENSP00000262018.3:p.Val121Gly
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.362T>G
  hgvsp: ENSP00000345522.6:p.Val121Gly
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.56T>G
  hgvsp: ENSP00000390371.2:p.Val19Gly
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.362T>G
  hgvsp: ENSP00000426571.1:p.Val121Gly
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.362T>G
  hgvsp: ENSP00000444539.1:p.Val121Gly
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*21T>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.153T>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*21T>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.83T>G
  hgvsp: ENSP00000426104.1:p.Val28Gly
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9561
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8381
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6488
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 9.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Val121Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

17-48245361-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245361
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245361
    reference: chr 17
allele count: 33
allele frequency: 2.719675616871878e-4
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.366G>A
  hgvsp: ENST00000344627.6:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.87G>A
  hgvsp: ENST00000511303.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.366G>A
  hgvsp: ENST00000262018.3:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.366G>A
  hgvsp: ENST00000513821.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*25G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.60G>A
  hgvsp: ENST00000451235.2:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.366G>A
  hgvsp: ENST00000543315.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*25G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*72G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.157G>A
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9671
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu122Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

17-48245366-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245366
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245366
    reference: chr 17
allele count: 3
allele frequency: 2.472513887286333e-5
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.371T>C
  hgvsp: ENSP00000262018.3:p.Ile124Thr
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.92T>C
  hgvsp: ENSP00000426104.1:p.Ile31Thr
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.371T>C
  hgvsp: ENSP00000345522.6:p.Ile124Thr
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*30T>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*77T>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*30T>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.371T>C
  hgvsp: ENSP00000444539.1:p.Ile124Thr
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.65T>C
  hgvsp: ENSP00000390371.2:p.Ile22Thr
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.371T>C
  hgvsp: ENSP00000426571.1:p.Ile124Thr
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.162T>C
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9674
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27229
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ile124Thr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/17-48245375-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245375
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245375
    reference: chr 17
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*86C>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.74C>A
  hgvsp: ENSP00000390371.2:p.Pro25Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.380C>A
  hgvsp: ENSP00000426571.1:p.Pro127Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.380C>A
  hgvsp: ENSP00000444539.1:p.Pro127Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.380C>A
  hgvsp: ENSP00000345522.6:p.Pro127Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.171C>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*39C>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.101C>A
  hgvsp: ENSP00000426104.1:p.Pro34Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.380C>A
  hgvsp: ENSP00000262018.3:p.Pro127Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*39C>A
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8469
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27225
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro127Gln
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

17-48245378-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245378
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245378
    reference: chr 17
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.174A>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*89A>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.104A>G
  hgvsp: ENSP00000426104.1:p.Glu35Gly
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.383A>G
  hgvsp: ENSP00000345522.6:p.Glu128Gly
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.383A>G
  hgvsp: ENSP00000444539.1:p.Glu128Gly
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.77A>G
  hgvsp: ENSP00000390371.2:p.Glu26Gly
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*42A>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.383A>G
  hgvsp: ENSP00000426571.1:p.Glu128Gly
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.383A>G
  hgvsp: ENSP00000262018.3:p.Glu128Gly
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*42A>G
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu128Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-48245384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245384
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245384
    reference: chr 17
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*44+4C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.385+4C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.106+4C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.385+4C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.385+4C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.79+4C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.385+4C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*44+4C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*91+4C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.176+4C>T
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9710
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.385+4C>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-48245402-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245402
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245402
    reference: chr 17
allele count: 2
allele frequency: 1.649266900862567e-5
allele num: 121266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*44+22C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.385+22C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.385+22C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*44+22C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.385+22C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.385+22C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.176+22C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*91+22C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.106+22C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.79+22C>G
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8453
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9608
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9626
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4058
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

17-48245409-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245409
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245409
    reference: chr 17
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*44+29C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.106+29C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*44+29C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.385+29C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.176+29C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.79+29C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.385+29C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.385+29C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*91+29C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.385+29C>G
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum

17-48245418-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245418
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245418
    reference: chr 17
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.106+38C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.385+38C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*44+38C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.385+38C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*91+38C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.385+38C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*44+38C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.176+38C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.79+38C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.385+38C>G
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4518
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/17-48245420-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245420
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245420
    reference: chr 17
allele count: 2
allele frequency: 1.650301179965344e-5
allele num: 121190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.106+40A>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*91+40A>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.176+40A>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.385+40A>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.385+40A>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*44+40A>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.385+40A>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*44+40A>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.385+40A>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.79+40A>C
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8348
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9428
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

17-48245684-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245684
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245684
    reference: chr 17
allele count: 1
allele frequency: 5.537098560354375e-5
allele num: 18060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*92-51G>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.386-51G>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.107-51G>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.386-51G>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*45-51G>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.386-51G>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.386-51G>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.177-51G>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*45-51G>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.80-51G>T
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15095
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5260
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

17-48245691-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245691
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245691
    reference: chr 17
allele count: 1
allele frequency: 5.531585352361987e-5
allele num: 18078
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*45-44G>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*92-44G>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.177-44G>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.386-44G>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.386-44G>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.80-44G>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.386-44G>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.107-44G>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.386-44G>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*45-44G>C
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15209
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum

17-48245693-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245693
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245693
    reference: chr 17
allele count: 1
allele frequency: 5.523031039434441e-5
allele num: 18106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.107-42T>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.386-42T>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.386-42T>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.80-42T>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.386-42T>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.177-42T>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*45-42T>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.386-42T>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*92-42T>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*45-42T>A
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6219
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

17-48245694-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245694
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245694
    reference: chr 17
allele count: 1
allele frequency: 5.520591807441758e-5
allele num: 18114
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.386-41G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.386-41G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*45-41G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.386-41G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.386-41G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.107-41G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.80-41G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.177-41G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*92-41G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*45-41G>A
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8805
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-48245695-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245695
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245695
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 18134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.386-40G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.80-40G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*45-40G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.386-40G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*45-40G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*92-40G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.107-40G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.386-40G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.177-40G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.386-40G>A
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15758
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-48245704-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245704
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245704
    reference: chr 17
allele count: 4
allele frequency: 2.179361447096001e-4
allele num: 18354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*45-31G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.386-31G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.80-31G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*92-31G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.177-31G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*45-31G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.386-31G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.386-31G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.107-31G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.386-31G>A
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31487
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17631
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11439
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff

17-48245717-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245717
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245716
    reference: chr 17
allele count: 10
allele frequency: 5.183495749533486e-4
allele num: 19292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*45-16delC
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*92-16delC
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.386-16delC
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.386-16delC
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.386-16delC
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*45-16delC
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.177-16delC
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.107-16delC
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.386-16delC
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.80-16delC
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27093
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22306
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: TC
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

17-48245742-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245742
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245742
    reference: chr 17
allele count: 1
allele frequency: 4.209108510817409e-5
allele num: 23758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*52G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.114G>A
  hgvsp: ENST00000511303.1:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.87G>A
  hgvsp: ENST00000451235.2:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.393G>A
  hgvsp: ENST00000344627.6:c.393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.393G>A
  hgvsp: ENST00000513821.1:c.393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.184G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.393G>A
  hgvsp: ENST00000543315.1:c.393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.393G>A
  hgvsp: ENST00000262018.3:c.393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*99G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*52G>A
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15838
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu131Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

17-48245751-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245751
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245751
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 27088
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.123C>G
  hgvsp: ENSP00000426104.1:p.Tyr41Ter
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*61C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.402C>G
  hgvsp: ENSP00000444539.1:p.Tyr134Ter
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*108C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.402C>G
  hgvsp: ENSP00000345522.6:p.Tyr134Ter
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.96C>G
  hgvsp: ENSP00000390371.2:p.Tyr32Ter
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*61C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.402C>G
  hgvsp: ENSP00000426571.1:p.Tyr134Ter
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.193C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.402C>G
  hgvsp: ENSP00000262018.3:p.Tyr134Ter
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: stop gained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11915
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34623
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr134Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

17-48245751-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245751
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245751
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 27088
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.402C>T
  hgvsp: ENST00000262018.3:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.123C>T
  hgvsp: ENST00000511303.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.193C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.96C>T
  hgvsp: ENST00000451235.2:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.402C>T
  hgvsp: ENST00000344627.6:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*61C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*108C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.402C>T
  hgvsp: ENST00000513821.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.402C>T
  hgvsp: ENST00000543315.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*61C>T
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11915
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr134Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

17-48245757-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245757
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245757
    reference: chr 17
allele count: 11
allele frequency: 3.794411866160745e-4
allele num: 28990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.129C>T
  hgvsp: ENST00000511303.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.102C>T
  hgvsp: ENST00000451235.2:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.408C>T
  hgvsp: ENST00000262018.3:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*67C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.408C>T
  hgvsp: ENST00000543315.1:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.408C>T
  hgvsp: ENST00000513821.1:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*67C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.408C>T
  hgvsp: ENST00000344627.6:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.199C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*114C>T
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35563
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10047
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34114
  bin: 2.25e1
  variant carriers: 1
hgvs: p.Ala136Ala
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP

17-48245758-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245758
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245758
    reference: chr 17
allele count: 2
allele frequency: 6.799945600435197e-5
allele num: 29412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*68G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.409G>A
  hgvsp: ENSP00000345522.6:p.Glu137Lys
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.409G>A
  hgvsp: ENSP00000262018.3:p.Glu137Lys
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.409G>A
  hgvsp: ENSP00000444539.1:p.Glu137Lys
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.409G>A
  hgvsp: ENSP00000426571.1:p.Glu137Lys
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*68G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.103G>A
  hgvsp: ENSP00000390371.2:p.Glu35Lys
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*115G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.200G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.130G>A
  hgvsp: ENSP00000426104.1:p.Glu44Lys
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35710
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9712
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu137Lys
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

17-48245761-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245761
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245761
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 30144
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.106T>C
  hgvsp: ENSP00000390371.2:p.Phe36Leu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.412T>C
  hgvsp: ENSP00000262018.3:p.Phe138Leu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*71T>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.412T>C
  hgvsp: ENSP00000345522.6:p.Phe138Leu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.412T>C
  hgvsp: ENSP00000444539.1:p.Phe138Leu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.412T>C
  hgvsp: ENSP00000426571.1:p.Phe138Leu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.203T>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*71T>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*118T>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.133T>C
  hgvsp: ENSP00000426104.1:p.Phe45Leu
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35921
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe138Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-48245766-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245766
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245766
    reference: chr 17
allele count: 1
allele frequency: 3.206567049317001e-5
allele num: 31186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.417G>A
  hgvsp: ENST00000543315.1:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*123G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.111G>A
  hgvsp: ENST00000451235.2:c.111G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*76G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.417G>A
  hgvsp: ENST00000513821.1:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*76G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.138G>A
  hgvsp: ENST00000511303.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.208G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.417G>A
  hgvsp: ENST00000344627.6:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.417G>A
  hgvsp: ENST00000262018.3:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu139Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/17-48245770-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245770
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245770
    reference: chr 17
allele count: 37
allele frequency: 1.155239165729986e-3
allele num: 32028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*80C>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*127C>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.421C>A
  hgvsp: ENSP00000262018.3:p.Arg141Ser
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.421C>A
  hgvsp: ENSP00000345522.6:p.Arg141Ser
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.115C>A
  hgvsp: ENSP00000390371.2:p.Arg39Ser
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.421C>A
  hgvsp: ENSP00000426571.1:p.Arg141Ser
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*80C>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.212C>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.142C>A
  hgvsp: ENSP00000426104.1:p.Arg48Ser
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.421C>A
  hgvsp: ENSP00000444539.1:p.Arg141Ser
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8263
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35792
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg141Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

17-48245778-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245778
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245778
    reference: chr 17
allele count: 1
allele frequency: 2.973889252364242e-5
allele num: 33626
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.150C>T
  hgvsp: ENST00000511303.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.220C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*135C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.429C>T
  hgvsp: ENST00000513821.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.429C>T
  hgvsp: ENST00000344627.6:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.429C>T
  hgvsp: ENST00000262018.3:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.123C>T
  hgvsp: ENST00000451235.2:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*88C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*88C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.429C>T
  hgvsp: ENST00000543315.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35447
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7878
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His143His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

17-48245779-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245779
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245779
    reference: chr 17
allele count: 4
allele frequency: 1.182242714429272e-4
allele num: 33834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.430G>A
  hgvsp: ENSP00000426571.1:p.Asp144Asn
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.151G>A
  hgvsp: ENSP00000426104.1:p.Asp51Asn
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*89G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.124G>A
  hgvsp: ENSP00000390371.2:p.Asp42Asn
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*89G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.430G>A
  hgvsp: ENSP00000444539.1:p.Asp144Asn
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.430G>A
  hgvsp: ENSP00000345522.6:p.Asp144Asn
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.430G>A
  hgvsp: ENSP00000262018.3:p.Asp144Asn
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*136G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.221G>A
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7873
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp144Asn
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

17-48245781-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245781
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245781
    reference: chr 17
allele count: 1
allele frequency: 2.923292797006548e-5
allele num: 34208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*91T>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.126T>G
  hgvsp: ENSP00000390371.2:p.Asp42Glu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.432T>G
  hgvsp: ENSP00000444539.1:p.Asp144Glu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.432T>G
  hgvsp: ENSP00000345522.6:p.Asp144Glu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.432T>G
  hgvsp: ENSP00000426571.1:p.Asp144Glu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*91T>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.432T>G
  hgvsp: ENSP00000262018.3:p.Asp144Glu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*138T>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.153T>G
  hgvsp: ENSP00000426104.1:p.Asp51Glu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.223T>G
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp144Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

17-48245783-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245783
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245783
    reference: chr 17
allele count: 1
allele frequency: 2.926201205594897e-5
allele num: 34174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.434C>T
  hgvsp: ENSP00000444539.1:p.Ala145Val
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.225C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*140C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*93C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.434C>T
  hgvsp: ENSP00000345522.6:p.Ala145Val
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.434C>T
  hgvsp: ENSP00000262018.3:p.Ala145Val
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.434C>T
  hgvsp: ENSP00000426571.1:p.Ala145Val
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.128C>T
  hgvsp: ENSP00000390371.2:p.Ala43Val
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*93C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.155C>T
  hgvsp: ENSP00000426104.1:p.Ala52Val
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7800
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala145Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

17-48245784-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245784
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245784
    reference: chr 17
allele count: 2
allele frequency: 5.779678649867068e-5
allele num: 34604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.435G>A
  hgvsp: ENST00000513821.1:c.435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.435G>A
  hgvsp: ENST00000344627.6:c.435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.129G>A
  hgvsp: ENST00000451235.2:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*94G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*141G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.156G>A
  hgvsp: ENST00000511303.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.226G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*94G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.435G>A
  hgvsp: ENST00000262018.3:c.435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.435G>A
  hgvsp: ENST00000543315.1:c.435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala145Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/17-48245806-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245806
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245806
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 35750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.178C>A
  hgvsp: ENSP00000426104.1:p.Pro60Thr
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*116C>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*116C>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.457C>A
  hgvsp: ENSP00000444539.1:p.Pro153Thr
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.457C>A
  hgvsp: ENSP00000345522.6:p.Pro153Thr
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.457C>A
  hgvsp: ENSP00000426571.1:p.Pro153Thr
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.248C>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.151C>A
  hgvsp: ENSP00000390371.2:p.Pro51Thr
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*163C>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.457C>A
  hgvsp: ENSP00000262018.3:p.Pro153Thr
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9038
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33201
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro153Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

17-48245815-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245815
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245815
    reference: chr 17
allele count: 4
allele frequency: 1.132823562730105e-4
allele num: 35310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.466C>T
  hgvsp: ENSP00000444539.1:p.Arg156Cys
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.466C>T
  hgvsp: ENSP00000345522.6:p.Arg156Cys
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.160C>T
  hgvsp: ENSP00000390371.2:p.Arg54Cys
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*125C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.466C>T
  hgvsp: ENSP00000426571.1:p.Arg156Cys
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*172C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*125C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.187C>T
  hgvsp: ENSP00000426104.1:p.Arg63Cys
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.466C>T
  hgvsp: ENSP00000262018.3:p.Arg156Cys
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.257C>T
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32680
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9776
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg156Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

17-48245816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245816
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245816
    reference: chr 17
allele count: 4
allele frequency: 1.133594059967126e-4
allele num: 35286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.467G>A
  hgvsp: ENSP00000426571.1:p.Arg156His
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*173G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.467G>A
  hgvsp: ENSP00000444539.1:p.Arg156His
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.467G>A
  hgvsp: ENSP00000345522.6:p.Arg156His
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*126G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.161G>A
  hgvsp: ENSP00000390371.2:p.Arg54His
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.258G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.188G>A
  hgvsp: ENSP00000426104.1:p.Arg63His
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*126G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.467G>A
  hgvsp: ENSP00000262018.3:p.Arg156His
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6470
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9493
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg156His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

17-48245817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245817
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245817
    reference: chr 17
allele count: 1
allele frequency: 2.820715333408552e-5
allele num: 35452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*127C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.468C>T
  hgvsp: ENST00000262018.3:c.468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.468C>T
  hgvsp: ENST00000344627.6:c.468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*127C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.468C>T
  hgvsp: ENST00000543315.1:c.468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.162C>T
  hgvsp: ENST00000451235.2:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.468C>T
  hgvsp: ENST00000513821.1:c.468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.189C>T
  hgvsp: ENST00000511303.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.259C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*174C>T
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg156Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

17-48245820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245820
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245820
    reference: chr 17
allele count: 2
allele frequency: 5.713632727688264e-5
allele num: 35004
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.471C>T
  hgvsp: ENST00000344627.6:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*177C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*130C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*130C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.471C>T
  hgvsp: ENST00000262018.3:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.165C>T
  hgvsp: ENST00000451235.2:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.192C>T
  hgvsp: ENST00000511303.1:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.471C>T
  hgvsp: ENST00000513821.1:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.471C>T
  hgvsp: ENST00000543315.1:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.262C>T
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9955
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32499
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe157Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

17-48245825-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245825
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245825
    reference: chr 17
allele count: 1
allele frequency: 2.887502887502887e-5
allele num: 34632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.170C>T
  hgvsp: ENSP00000390371.2:p.Ser57Leu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*182C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.476C>T
  hgvsp: ENSP00000262018.3:p.Ser159Leu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.476C>T
  hgvsp: ENSP00000426571.1:p.Ser159Leu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*135C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.476C>T
  hgvsp: ENSP00000444539.1:p.Ser159Leu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.267C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.476C>T
  hgvsp: ENSP00000345522.6:p.Ser159Leu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*135C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.197C>T
  hgvsp: ENSP00000426104.1:p.Ser66Leu
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser159Leu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

17-48245831-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245831
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245832
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 33994
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.279dupG
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.209dupG
  hgvsp: ENSP00000426104.1:p.Leu71ThrfsTer27
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*147dupG
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.182dupG
  hgvsp: ENSP00000390371.2:p.Leu62ThrfsTer27
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*147dupG
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.488dupG
  hgvsp: ENSP00000262018.3:p.Leu164ThrfsTer27
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.488dupG
  hgvsp: ENSP00000345522.6:p.Leu164ThrfsTer27
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.488dupG
  hgvsp: ENSP00000444539.1:p.Leu164ThrfsTer27
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.488dupG
  hgvsp: ENSP00000426571.1:p.Leu164ThrfsTer27
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*194dupG
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10857
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32030
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu164ThrfsTer27
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

17-48245837-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245837
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245836
    reference: chr 17
allele count: 1
allele frequency: 3.003724618526973e-5
allele num: 33292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*195delA
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.489delA
  hgvsp: ENSP00000426571.1:p.Leu164SerfsTer47
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.183delA
  hgvsp: ENSP00000390371.2:p.Leu62SerfsTer47
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.280delA
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*148delA
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.210delA
  hgvsp: ENSP00000426104.1:p.Leu71SerfsTer33
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.489delA
  hgvsp: ENSP00000262018.3:p.Leu164SerfsTer47
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.489delA
  hgvsp: ENSP00000444539.1:p.Leu164SerfsTer129
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*148delA
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.489delA
  hgvsp: ENSP00000345522.6:p.Leu164SerfsTer33
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11538
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3205
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu164SerfsTer47
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: GA
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

17-48245842-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245842
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245842
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 33062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*152T>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.284T>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*199T>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.493T>C
  hgvsp: ENSP00000345522.6:p.Trp165Arg
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.493T>C
  hgvsp: ENSP00000426571.1:p.Trp165Arg
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.493T>C
  hgvsp: ENSP00000444539.1:p.Trp165Arg
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.187T>C
  hgvsp: ENSP00000390371.2:p.Trp63Arg
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.214T>C
  hgvsp: ENSP00000426104.1:p.Trp72Arg
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*152T>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.493T>C
  hgvsp: ENSP00000262018.3:p.Trp165Arg
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11825
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31638
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Trp165Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

17-48245850-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245850
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245850
    reference: chr 17
allele count: 3
allele frequency: 9.364464976900986e-5
allele num: 32036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.501C>T
  hgvsp: ENST00000344627.6:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*160C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*207C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.195C>T
  hgvsp: ENST00000451235.2:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.501C>T
  hgvsp: ENST00000513821.1:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.501C>T
  hgvsp: ENST00000262018.3:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*160C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.501C>T
  hgvsp: ENST00000543315.1:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.292C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.222C>T
  hgvsp: ENST00000511303.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31434
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Pro167Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

17-48245851-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245851
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245851
    reference: chr 17
allele count: 1
allele frequency: 3.101352189554646e-5
allele num: 32244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.196G>A
  hgvsp: ENSP00000390371.2:p.Gly66Arg
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.223G>A
  hgvsp: ENSP00000426104.1:p.Gly75Arg
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.502G>A
  hgvsp: ENSP00000345522.6:p.Gly168Arg
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*161G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.293G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*161G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.502G>A
  hgvsp: ENSP00000262018.3:p.Gly168Arg
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.502G>A
  hgvsp: ENSP00000444539.1:p.Gly168Arg
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*208G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.502G>A
  hgvsp: ENSP00000426571.1:p.Gly168Arg
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3289
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly168Arg
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-48245855-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245855
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245855
    reference: chr 17
allele count: 1
allele frequency: 3.102121851346321e-5
allele num: 32236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.506A>T
  hgvsp: ENSP00000345522.6:p.Glu169Val
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*212A>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.200A>T
  hgvsp: ENSP00000390371.2:p.Glu67Val
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*165A>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.506A>T
  hgvsp: ENSP00000426571.1:p.Glu169Val
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.506A>T
  hgvsp: ENSP00000262018.3:p.Glu169Val
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.506A>T
  hgvsp: ENSP00000444539.1:p.Glu169Val
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.297A>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.227A>T
  hgvsp: ENSP00000426104.1:p.Glu76Val
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*165A>T
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3444
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu169Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP

17-48245867-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245867
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245867
    reference: chr 17
allele count: 4
allele frequency: 1.250859966226781e-4
allele num: 31978
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.518T>C
  hgvsp: ENSP00000426571.1:p.Leu173Pro
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.518T>C
  hgvsp: ENSP00000262018.3:p.Leu173Pro
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*177T>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.212T>C
  hgvsp: ENSP00000390371.2:p.Leu71Pro
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.239T>C
  hgvsp: ENSP00000426104.1:p.Leu80Pro
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*224T>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*177T>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.518T>C
  hgvsp: ENSP00000345522.6:p.Leu173Pro
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.518T>C
  hgvsp: ENSP00000444539.1:p.Leu173Pro
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.309T>C
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12746
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31350
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu173Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

17-48245871-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245871
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245871
    reference: chr 17
allele count: 2
allele frequency: 6.300800201625606e-5
allele num: 31742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.522C>T
  hgvsp: ENST00000543315.1:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.522C>T
  hgvsp: ENST00000513821.1:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*228C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.313C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.522C>T
  hgvsp: ENST00000344627.6:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.243C>T
  hgvsp: ENST00000511303.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*181C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*181C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.522C>T
  hgvsp: ENST00000262018.3:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.216C>T
  hgvsp: ENST00000451235.2:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31215
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12907
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn174Asn
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

17-48245877-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245877
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245877
    reference: chr 17
allele count: 231
allele frequency: 7.252747252747253e-3
allele num: 31850
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*234C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*187C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.528C>T
  hgvsp: ENST00000543315.1:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*187C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.222C>T
  hgvsp: ENST00000451235.2:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.528C>T
  hgvsp: ENST00000262018.3:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.528C>T
  hgvsp: ENST00000344627.6:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.528C>T
  hgvsp: ENST00000513821.1:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.249C>T
  hgvsp: ENST00000511303.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.319C>T
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30814
  bin: 7.5e0
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13219
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 1.25e1
  variant carriers: 99
genotype quality: GenotypeQuality
hgvs: p.Thr176Thr
num of homozygotes: 2
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/17-48245890-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245890
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245890
    reference: chr 17
allele count: 1
allele frequency: 3.327787021630615e-5
allele num: 30050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422030
  ensembl transcript: ENST00000504073
  gene symbol: SGCA
  hgvsc: ENST00000504073.1:c.8C>A
  hgvsp: ENSP00000422030.1:p.Arg4Ser
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.332C>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*247C>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.541C>A
  hgvsp: ENSP00000262018.3:p.Arg181Ser
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.541C>A
  hgvsp: ENSP00000426571.1:p.Arg181Ser
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.541C>A
  hgvsp: ENSP00000345522.6:p.Arg181Ser
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.235C>A
  hgvsp: ENSP00000390371.2:p.Arg79Ser
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.541C>A
  hgvsp: ENSP00000444539.1:p.Arg181Ser
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.262C>A
  hgvsp: ENSP00000426104.1:p.Arg88Ser
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*200C>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*200C>A
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg181Ser
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ

17-48245890-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245890
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245890
    reference: chr 17
allele count: 3
allele frequency: 9.983361064891847e-5
allele num: 30050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.235C>T
  hgvsp: ENSP00000390371.2:p.Arg79Cys
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*200C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422030
  ensembl transcript: ENST00000504073
  gene symbol: SGCA
  hgvsc: ENST00000504073.1:c.8C>T
  hgvsp: ENSP00000422030.1:p.Arg4Cys
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*247C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.541C>T
  hgvsp: ENSP00000426571.1:p.Arg181Cys
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.262C>T
  hgvsp: ENSP00000426104.1:p.Arg88Cys
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.541C>T
  hgvsp: ENSP00000345522.6:p.Arg181Cys
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.541C>T
  hgvsp: ENSP00000262018.3:p.Arg181Cys
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.541C>T
  hgvsp: ENSP00000444539.1:p.Arg181Cys
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.332C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*200C>T
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg181Cys
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

17-48245891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245891
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245891
    reference: chr 17
allele count: 4
allele frequency: 1.332800213248034e-4
allele num: 30012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.542G>A
  hgvsp: ENSP00000426571.1:p.Arg181His
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.263G>A
  hgvsp: ENSP00000426104.1:p.Arg88His
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*201G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.542G>A
  hgvsp: ENSP00000345522.6:p.Arg181His
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.542G>A
  hgvsp: ENSP00000262018.3:p.Arg181His
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.236G>A
  hgvsp: ENSP00000390371.2:p.Arg79His
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*248G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*201G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.542G>A
  hgvsp: ENSP00000444539.1:p.Arg181His
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422030
  ensembl transcript: ENST00000504073
  gene symbol: SGCA
  hgvsc: ENST00000504073.1:c.9G>A
  hgvsp: ENSP00000422030.1:p.Arg4His
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.333G>A
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28416
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg181His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

17-48245891-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245891
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245891
    reference: chr 17
allele count: 1
allele frequency: 3.332000533120085e-5
allele num: 30012
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.542G>C
  hgvsp: ENSP00000444539.1:p.Arg181Pro
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.236G>C
  hgvsp: ENSP00000390371.2:p.Arg79Pro
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*201G>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*248G>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.542G>C
  hgvsp: ENSP00000345522.6:p.Arg181Pro
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.542G>C
  hgvsp: ENSP00000426571.1:p.Arg181Pro
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*201G>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.333G>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.542G>C
  hgvsp: ENSP00000262018.3:p.Arg181Pro
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422030
  ensembl transcript: ENST00000504073
  gene symbol: SGCA
  hgvsc: ENST00000504073.1:c.9G>C
  hgvsp: ENSP00000422030.1:p.Arg4Pro
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.263G>C
  hgvsp: ENSP00000426104.1:p.Arg88Pro
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg181Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

17-48245892-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245892
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245892
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 30068
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.543T>A
  hgvsp: ENST00000262018.3:c.543T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*249T>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422030
  ensembl transcript: ENST00000504073
  gene symbol: SGCA
  hgvsc: ENST00000504073.1:c.10T>A
  hgvsp: ENST00000504073.1:c.10T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*202T>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.264T>A
  hgvsp: ENST00000511303.1:c.264T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.334T>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.543T>A
  hgvsp: ENST00000513821.1:c.543T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.237T>A
  hgvsp: ENST00000451235.2:c.237T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*202T>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.543T>A
  hgvsp: ENST00000344627.6:c.543T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.543T>A
  hgvsp: ENST00000543315.1:c.543T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28483
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg181Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

17-48245894-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245894
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245894
    reference: chr 17
allele count: 1
allele frequency: 3.342692873378794e-5
allele num: 29916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422030
  ensembl transcript: ENST00000504073
  gene symbol: SGCA
  hgvsc: ENST00000504073.1:c.12G>A
  hgvsp: ENSP00000422030.1:p.Gly5Glu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.336G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.545G>A
  hgvsp: ENSP00000444539.1:p.Gly182Glu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*204G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*251G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.239G>A
  hgvsp: ENSP00000390371.2:p.Gly80Glu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.545G>A
  hgvsp: ENSP00000426571.1:p.Gly182Glu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.266G>A
  hgvsp: ENSP00000426104.1:p.Gly89Glu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.545G>A
  hgvsp: ENSP00000345522.6:p.Gly182Glu
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*204G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.545G>A
  hgvsp: ENSP00000262018.3:p.Gly182Glu
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28349
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly182Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

17-48245895-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245895
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245895
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 29778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.546G>A
  hgvsp: ENST00000513821.1:c.546G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*205G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*252G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422030
  ensembl transcript: ENST00000504073
  gene symbol: SGCA
  hgvsc: ENST00000504073.1:c.13G>A
  hgvsp: ENST00000504073.1:c.13G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.546G>A
  hgvsp: ENST00000543315.1:c.546G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.267G>A
  hgvsp: ENST00000511303.1:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.546G>A
  hgvsp: ENST00000262018.3:c.546G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.546G>A
  hgvsp: ENST00000344627.6:c.546G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.240G>A
  hgvsp: ENST00000451235.2:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*205G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.337G>A
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16624
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28143
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly182Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-48245897-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245897
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245897
    reference: chr 17
allele count: 2
allele frequency: 6.742633672712562e-5
allele num: 29662
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.269G>A
  hgvsp: ENSP00000426104.1:p.Gly90Asp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.548G>A
  hgvsp: ENSP00000426571.1:p.Gly183Asp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*207G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422030
  ensembl transcript: ENST00000504073
  gene symbol: SGCA
  hgvsc: ENST00000504073.1:c.15G>A
  hgvsp: ENSP00000422030.1:p.Gly6Asp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.548G>A
  hgvsp: ENSP00000444539.1:p.Gly183Asp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*254G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.242G>A
  hgvsp: ENSP00000390371.2:p.Gly81Asp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.548G>A
  hgvsp: ENSP00000345522.6:p.Gly183Asp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*207G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.548G>A
  hgvsp: ENSP00000262018.3:p.Gly183Asp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.339G>A
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly183Asp
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-48245900-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245900
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245900
    reference: chr 17
allele count: 1
allele frequency: 3.419271011420365e-5
allele num: 29246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.245G>A
  hgvsp: ENSP00000390371.2:p.Arg82His
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*257G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.551G>A
  hgvsp: ENSP00000426571.1:p.Arg184His
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.551G>A
  hgvsp: ENSP00000345522.6:p.Arg184His
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.551G>A
  hgvsp: ENSP00000262018.3:p.Arg184His
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.272G>A
  hgvsp: ENSP00000426104.1:p.Arg91His
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.342G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*210G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422030
  ensembl transcript: ENST00000504073
  gene symbol: SGCA
  hgvsc: ENST00000504073.1:c.18G>A
  hgvsp: ENSP00000422030.1:p.Arg7His
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.551G>A
  hgvsp: ENSP00000444539.1:p.Arg184His
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*210G>A
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27372
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17545
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg184His
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/17-48245904-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245904
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245904
    reference: chr 17
allele count: 1
allele frequency: 3.444000551040088e-5
allele num: 29036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422030
  ensembl transcript: ENST00000504073
  gene symbol: SGCA
  hgvsc: ENST00000504073.1:c.22C>A
  hgvsp: ENST00000504073.1:c.22C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.555C>A
  hgvsp: ENST00000513821.1:c.555C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*214C>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.249C>A
  hgvsp: ENST00000451235.2:c.249C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.276C>A
  hgvsp: ENST00000511303.1:c.276C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*261C>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.346C>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.555C>A
  hgvsp: ENST00000344627.6:c.555C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*214C>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.555C>A
  hgvsp: ENST00000543315.1:c.555C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.555C>A
  hgvsp: ENST00000262018.3:c.555C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26641
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val185Val
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

17-48245906-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245906
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245906
    reference: chr 17
allele count: 1
allele frequency: 3.468368479467259e-5
allele num: 28832
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422030
  ensembl transcript: ENST00000504073
  gene symbol: SGCA
  hgvsc: ENST00000504073.1:c.24C>G
  hgvsp: ENSP00000422030.1:p.Pro9Arg
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.557C>G
  hgvsp: ENSP00000426571.1:p.Pro186Arg
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.348C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.278C>G
  hgvsp: ENSP00000426104.1:p.Pro93Arg
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.557C>G
  hgvsp: ENSP00000345522.6:p.Pro186Arg
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*216C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*263C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*216C>G
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.251C>G
  hgvsp: ENSP00000390371.2:p.Pro84Arg
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.557C>G
  hgvsp: ENSP00000262018.3:p.Pro186Arg
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.557C>G
  hgvsp: ENSP00000444539.1:p.Pro186Arg
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19000
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro186Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

17-48245915-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245915
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245915
    reference: chr 17
allele count: 1
allele frequency: 3.590664272890485e-5
allele num: 27850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.357T>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.260T>A
  hgvsp: ENSP00000390371.2:p.Ile87Asn
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*225T>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*225T>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422030
  ensembl transcript: ENST00000504073
  gene symbol: SGCA
  hgvsc: ENST00000504073.1:c.33T>A
  hgvsp: ENSP00000422030.1:p.Ile12Asn
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.566T>A
  hgvsp: ENSP00000426571.1:p.Ile189Asn
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.287T>A
  hgvsp: ENSP00000426104.1:p.Ile96Asn
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.566T>A
  hgvsp: ENSP00000444539.1:p.Ile189Asn
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.566T>A
  hgvsp: ENSP00000262018.3:p.Ile189Asn
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.566T>A
  hgvsp: ENSP00000345522.6:p.Ile189Asn
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*272T>A
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile189Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-48245923-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245923
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245923
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 26420
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*233C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.365C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.574C>T
  hgvsp: ENSP00000262018.3:p.Arg192Ter
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.574C>T
  hgvsp: ENSP00000444539.1:p.Arg192Ter
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.574C>T
  hgvsp: ENSP00000345522.6:p.Arg192Ter
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.574C>T
  hgvsp: ENSP00000426571.1:p.Arg192Ter
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422030
  ensembl transcript: ENST00000504073
  gene symbol: SGCA
  hgvsc: ENST00000504073.1:c.41C>T
  hgvsp: ENSP00000422030.1:p.Arg15Ter
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.295C>T
  hgvsp: ENSP00000426104.1:p.Arg99Ter
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.268C>T
  hgvsp: ENSP00000390371.2:p.Arg90Ter
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*280C>T
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*233C>T
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: stop gained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25760
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19676
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg192Ter
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

17-48245924-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245924
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245924
    reference: chr 17
allele count: 1
allele frequency: 3.866976024748646e-5
allele num: 25860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.269G>A
  hgvsp: ENSP00000390371.2:p.Arg90Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*281G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.575G>A
  hgvsp: ENSP00000444539.1:p.Arg192Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422030
  ensembl transcript: ENST00000504073
  gene symbol: SGCA
  hgvsc: ENST00000504073.1:c.42G>A
  hgvsp: ENSP00000422030.1:p.Arg15Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.366G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.296G>A
  hgvsp: ENSP00000426104.1:p.Arg99Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.575G>A
  hgvsp: ENSP00000262018.3:p.Arg192Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.575G>A
  hgvsp: ENSP00000426571.1:p.Arg192Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*234G>A
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.575G>A
  hgvsp: ENSP00000345522.6:p.Arg192Gln
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*234G>A
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18805
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg192Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-48245931-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48245931
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48245931
    reference: chr 17
allele count: 1
allele frequency: 3.98406374501992e-5
allele num: 25100
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000262018
  ensembl transcript: ENST00000262018
  gene symbol: SGCA
  hgvsc: ENST00000262018.3:c.582A>C
  hgvsp: ENSP00000262018.3:p.Glu194Asp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108823
  ensembl transcript: ENST00000513942
  gene symbol: SGCA
  hgvsc: ENST00000513942.1:n.373A>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422030
  ensembl transcript: ENST00000504073
  gene symbol: SGCA
  hgvsc: ENST00000504073.1:c.49A>C
  hgvsp: ENSP00000422030.1:p.Glu17Asp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426571
  ensembl transcript: ENST00000513821
  gene symbol: SGCA
  hgvsc: ENST00000513821.1:c.582A>C
  hgvsp: ENSP00000426571.1:p.Glu194Asp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000390371
  ensembl transcript: ENST00000451235
  gene symbol: SGCA
  hgvsc: ENST00000451235.2:c.276A>C
  hgvsp: ENSP00000390371.2:p.Glu92Asp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000444539
  ensembl transcript: ENST00000543315
  gene symbol: SGCA
  hgvsc: ENST00000543315.1:c.582A>C
  hgvsp: ENSP00000444539.1:p.Glu194Asp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426606
  ensembl transcript: ENST00000512526
  gene symbol: SGCA
  hgvsc: ENST00000512526.1:c.*241A>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000345522
  ensembl transcript: ENST00000344627
  gene symbol: SGCA
  hgvsc: ENST00000344627.6:c.582A>C
  hgvsp: ENSP00000345522.6:p.Glu194Asp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000426104
  ensembl transcript: ENST00000511303
  gene symbol: SGCA
  hgvsc: ENST00000511303.1:c.303A>C
  hgvsp: ENSP00000426104.1:p.Glu101Asp
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000422817
  ensembl transcript: ENST00000502555
  gene symbol: SGCA
  hgvsc: ENST00000502555.1:c.*241A>C
  variant of: http://identifiers.org/hgnc/10805
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108823
  ensembl protein: ENSP00000423168
  ensembl transcript: ENST00000514934
  gene symbol: SGCA
  hgvsc: ENST00000514934.1:c.*288A>C
  variant of: http://identifiers.org/hgnc/10805
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu194Asp
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5276
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4585
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2359
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4621
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9321
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2608
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4037
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27790
bin: 9.75e1
variant carriers: 1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

DP
type: SiteQuality
SIO_000300: 2.966337e6

FS
type: SiteQuality
SIO_000300: 7.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeDepth
all individuals: 758
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9546
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9326
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4584
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27789
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 2359
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4621
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2608
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4037
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5276
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.798399424512184e-4
allele num: 66726
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.83e-1

DP
type: SiteQuality
SIO_000300: 2.967248e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: 4.73e0

QD
type: SiteQuality
SIO_000300: 1.089e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.54e-1

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

GenotypeQuality
all individuals: 4621
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2358
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5274
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2609
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27786
bin: 9.75e1
variant carriers: 119

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4037
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4585
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9326
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 43
allele frequency: 6.501360749924402e-3
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.779010633379565e-4
allele num: 8652
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 68
allele frequency: 1.019154102095261e-3
allele num: 66722
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.956e1

VQSLOD
type: SiteQuality
SIO_000300: 5.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

DP
type: SiteQuality
SIO_000300: 2.971336e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4629
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2616
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9346
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5285
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 2362
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27710
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4595
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.119e0

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.193e1

DP
type: SiteQuality
SIO_000300: 2.956347e6

VQSLOD
type: SiteQuality
SIO_000300: 8.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.025e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
all individuals: 4593
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4629
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2617
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5286
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9337
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2362
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27708
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4046
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 4.818e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.37e0

VQSLOD
type: SiteQuality
SIO_000300: 5.26e-1

DP
type: SiteQuality
SIO_000300: 2.956066e6

MQ
type: SiteQuality
SIO_000300: 5.922e1

QD
type: SiteQuality
SIO_000300: 1.236e1

GenotypeQuality
all individuals: 4594
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9348
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2362
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5283
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2616
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4045
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27713
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 4629
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 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: 13
allele frequency: 1.948441247002398e-4
allele num: 66720
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.266e0

DP
type: SiteQuality
SIO_000300: 2.955778e6

VQSLOD
type: SiteQuality
SIO_000300: 8.55e-1

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

MQ
type: SiteQuality
SIO_000300: 5.247e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.571e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.072e0

GenotypeQuality
all individuals: 2614
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2363
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27707
bin: 9.75e1
variant carriers: 4

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4595
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4046
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9338
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5284
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4629
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.99538355466291e-5
allele num: 66718
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.239e1

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

DP
type: SiteQuality
SIO_000300: 2.955015e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.012e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
all individuals: 4593
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27706
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 2613
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 9314
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 4046
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2363
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5279
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4628
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.888503755054881e-4
allele num: 10386
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: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-2

QD
type: SiteQuality
SIO_000300: 1.21e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.41e-1

FS
type: SiteQuality
SIO_000300: 1.142e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 2.954854e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

GenotypeQuality
all individuals: 2615
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4046
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4628
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9342
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27697
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5278
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4590
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2362
bin: 8.75e1
variant carriers: 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: 4
allele frequency: 5.995743022454058e-5
allele num: 66714
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.836e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

DP
type: SiteQuality
SIO_000300: 2.954162e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.886e0

VQSLOD
type: SiteQuality
SIO_000300: 7.37e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

GenotypeQuality
all individuals: 5257
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2607
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2359
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 26936
bin: 9.75e1
variant carriers: 111

GenotypeQuality
all individuals: 9290
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variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 486
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 96
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4030
bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4575
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 4607
bin: 8.25e1
variant carriers: 5

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.314279102059708e-4
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 48
allele frequency: 4.771371769383698e-3
allele num: 10060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 103
allele frequency: 1.560180556817837e-3
allele num: 66018
num of homozygotes: 0

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

Other
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allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.93461e2

MQ
type: SiteQuality
SIO_000300: 5.908e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.936e0

QD
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

VQSLOD
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SIO_000300: -4.041e2

DP
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SIO_000300: 2.953068e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.43e0

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.759e0

GenotypeQuality
all individuals: 72
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 33

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

Latino
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allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

African
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allele count: 29
allele frequency: 2.794372711505107e-3
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

MQRankSum
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SIO_000300: 7.099999999999999e-2

QD
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ReadPosRankSum
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DP
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InbreedingCoeff
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SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ClippingRankSum
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VQSLOD
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SIO_000300: 3.43e0

BaseQRankSum
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SIO_000300: -6.8e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11576
num of homozygotes: 0

African
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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
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.497885993583016e-5
allele num: 66698
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8652
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: 6612
num of homozygotes: 0

DP
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SIO_000300: 2.918871e6

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
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SIO_000300: 5.32e-1

ReadPosRankSum
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SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.4e1

VQSLOD
type: SiteQuality
SIO_000300: 5.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.549e0

BaseQRankSum
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SIO_000300: 4.41e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.621e0

VQSLOD
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SIO_000300: -4.826e-1

ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.19e1

FS
type: SiteQuality
SIO_000300: 1.61e0

BaseQRankSum
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SIO_000300: -4.799e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.917461e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.348e0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.083e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
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SIO_000300: 8.359999999999999e0

DP
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SIO_000300: 2.917124e6

ClippingRankSum
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SIO_000300: 9.45e-1

VQSLOD
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FS
type: SiteQuality
SIO_000300: 3.322e0

MQRankSum
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SIO_000300: 1.72e-1

InbreedingCoeff
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: -1.82e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

African
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allele frequency: 0.0e0
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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

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.000570108320581e-5
allele num: 66654
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Non-Finnish)
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East Asian
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African
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allele frequency: 9.650646593321752e-5
allele num: 10362
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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FS
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DP
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4024
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.12e-1

QD
type: SiteQuality
SIO_000300: 1.028e1

FS
type: SiteQuality
SIO_000300: 3.922e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: -2.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.57e-1

DP
type: SiteQuality
SIO_000300: 2.893923e6

GenotypeQuality
all individuals: 422
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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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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bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 2
allele frequency: 2.313743637204998e-4
allele num: 8644
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.888904e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.926e0

FS
type: SiteQuality
SIO_000300: 7.026e0

QD
type: SiteQuality
SIO_000300: 1.336e1

MQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.04e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6816
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.005005005005005e-4
allele num: 1998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.75e-2

QD
type: SiteQuality
SIO_000300: 1.474e1

VQSLOD
type: SiteQuality
SIO_000300: -1.901e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.96e-1

DP
type: SiteQuality
SIO_000300: 4.67295e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.97e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.400560224089636e-3
allele num: 714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2002
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.467e1

VQSLOD
type: SiteQuality
SIO_000300: -2.689e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.56e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.231e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.73335e5

MQ
type: SiteQuality
SIO_000300: 5.899e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.545e0

GenotypeQuality
all individuals: 539
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 593
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.470155836518671e-4
allele num: 6802
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 4.76602e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.453e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.52e-2

QD
type: SiteQuality
SIO_000300: 1.28e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
all individuals: 670
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 269
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2014
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.46756677428823e-4
allele num: 6814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.49e-2

DP
type: SiteQuality
SIO_000300: 4.78667e5

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: -1.302e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.951e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.44e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 4.8035e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.443e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 4.71e0

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: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.881844380403458e-4
allele num: 6940
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 9.871668311944718e-4
allele num: 2026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
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SIO_000300: -1.231e0

FS
type: SiteQuality
SIO_000300: 1.495e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.083e1

DP
type: SiteQuality
SIO_000300: 4.94979e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.22e-2

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 397
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GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.100840336134454e-3
allele num: 476
num of homozygotes: 0

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

African
type: Population
allele count: 9
allele frequency: 4.186046511627907e-3
allele num: 2150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7964
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.58e-2

FS
type: SiteQuality
SIO_000300: 1.261e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

QD
type: SiteQuality
SIO_000300: 1.396e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

DP
type: SiteQuality
SIO_000300: 5.27195e5

GenotypeQuality
all individuals: 15159
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 489
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 153
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variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2572
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.215657670799903e-4
allele num: 8226
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.13e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.594e0

QD
type: SiteQuality
SIO_000300: 1.407e1

FS
type: SiteQuality
SIO_000300: 9.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.68e-1

DP
type: SiteQuality
SIO_000300: 6.13888e5

MQ
type: SiteQuality
SIO_000300: 5.929e1

MQRankSum
type: SiteQuality
SIO_000300: -6.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1967
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12090
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1142
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3022
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 7.45e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 1.569e0

VQSLOD
type: SiteQuality
SIO_000300: -8.124e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 6.54719e5

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3195
bin: 9.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12090
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.54719e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 1.569e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.124e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.45e0

GenotypeQuality
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
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variant carriers: 0

GenotypeQuality
all individuals: 103
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GenotypeQuality
all individuals: 496
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GenotypeQuality
all individuals: 1031
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variant carriers: 0

GenotypeQuality
all individuals: 1198
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variant carriers: 0

GenotypeQuality
all individuals: 809
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3203
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variant carriers: 13

GenotypeQuality
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GenotypeQuality
all individuals: 89
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 390
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4136
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GenotypeQuality
all individuals: 355
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.508978421608571e-4
allele num: 13254
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 8.256664307619722e-4
allele num: 8478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 9.718172983479105e-4
allele num: 2058
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.080000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.84e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 1.095e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

DP
type: SiteQuality
SIO_000300: 6.78454e5

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1779
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variant carriers: 0

GenotypeQuality
all individuals: 1000
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 902
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.028467595396729e-4
allele num: 3302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.406310176270182e-5
allele num: 13502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.168e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

DP
type: SiteQuality
SIO_000300: 6.82775e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 403
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13912
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 6.88434e5

QD
type: SiteQuality
SIO_000300: 1.349e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 916
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GenotypeQuality
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GenotypeQuality
all individuals: 402
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GenotypeQuality
all individuals: 496
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GenotypeQuality
all individuals: 400
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GenotypeQuality
all individuals: 523
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.865302759851709e-5
allele num: 14566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8662
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.455e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.315e0

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.599e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -8.367e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.59e-1

DP
type: SiteQuality
SIO_000300: 6.98661e5

GenotypeQuality
all individuals: 1030
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4730
bin: 6.25e1
variant carriers: 2

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 33

GenotypeQuality
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bin: 1.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 2

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 523
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 164
bin: 4.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 1.85111728150205e-3
allele num: 15126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 3.942181340341655e-3
allele num: 1522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3556
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.44748333716387e-4
allele num: 8702
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

FS
type: SiteQuality
SIO_000300: 1.142e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.63e-2

DP
type: SiteQuality
SIO_000300: 7.05344e5

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

QD
type: SiteQuality
SIO_000300: 1.083e1

GenotypeQuality
all individuals: 148
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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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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bin: 3.75e1
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GenotypeQuality
all individuals: 4822
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.199628022318661e-5
allele num: 16130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1632
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.97e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-2

DP
type: SiteQuality
SIO_000300: 7.14092e5

GenotypeQuality
all individuals: 1038
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3202
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 498
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GenotypeQuality
all individuals: 890
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2512
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.398278205709108e-4
allele num: 8828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3772
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 6.127450980392157e-4
allele num: 1632
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

DP
type: SiteQuality
SIO_000300: 7.15395e5

MQRankSum
type: SiteQuality
SIO_000300: -2.98e-1

FS
type: SiteQuality
SIO_000300: 2.014e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.65e-2

QD
type: SiteQuality
SIO_000300: 1.307e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

GenotypeQuality
all individuals: 1167
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
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variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.64e-2

DP
type: SiteQuality
SIO_000300: 7.16088e5

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.25e-1

QD
type: SiteQuality
SIO_000300: 2.364e1

VQSLOD
type: SiteQuality
SIO_000300: -2.721e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4819
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

DP
type: SiteQuality
SIO_000300: 7.17352e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.75e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.237e1

GenotypeQuality
all individuals: 5059
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 401
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variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2576
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.952380952380953e-4
allele num: 1680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.963029218843172e-5
allele num: 16770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8856
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.15e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 5.95e0

FS
type: SiteQuality
SIO_000300: 6.024e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.72e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.19587e5

GenotypeQuality
all individuals: 2110
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 528
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variant carriers: 0

GenotypeQuality
all individuals: 3983
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4024
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 7.07368e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.97e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

FS
type: SiteQuality
SIO_000300: 2.808e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.77e0

GenotypeQuality
all individuals: 401
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 415
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GenotypeQuality
all individuals: 3208
bin: 9.75e1
variant carriers: 5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.0290088638195e-4
allele num: 2482
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 6.112469437652812e-4
allele num: 1636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.759705103098721e-5
allele num: 17362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4012
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.127141568981064e-4
allele num: 8872
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

DP
type: SiteQuality
SIO_000300: 7.05318e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.377e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

FS
type: SiteQuality
SIO_000300: 1.068e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.09e-2

GenotypeQuality
all individuals: 139
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2698
bin: 1.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.152604887044721e-4
allele num: 17352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2474
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.128413450688332e-4
allele num: 8862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 6.211180124223603e-4
allele num: 1610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.249e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.358e0

DP
type: SiteQuality
SIO_000300: 7.07179e5

MQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

QD
type: SiteQuality
SIO_000300: 8.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.16e-2

GenotypeQuality
all individuals: 2093
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 507
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4018
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.722133211261158e-5
allele num: 17476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 6.83e0

FS
type: SiteQuality
SIO_000300: 2.398e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.07e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.134e0

DP
type: SiteQuality
SIO_000300: 7.04651e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.453000000000001e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30541
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3206
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 507
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.128668171557562e-4
allele num: 8860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.811250581125058e-5
allele num: 17208
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.00463e5

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 6.83e0

VQSLOD
type: SiteQuality
SIO_000300: -7.924e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.16e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

GenotypeQuality
all individuals: 508
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
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GenotypeQuality
all individuals: 416
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variant carriers: 0

GenotypeQuality
all individuals: 525
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variant carriers: 1

GenotypeQuality
all individuals: 868
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variant carriers: 0

GenotypeQuality
all individuals: 10503
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GenotypeQuality
all individuals: 171
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GenotypeQuality
all individuals: 401
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2371
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GenotypeQuality
all individuals: 1320
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GenotypeQuality
all individuals: 3204
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GenotypeQuality
all individuals: 272
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GenotypeQuality
all individuals: 536
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GenotypeQuality
all individuals: 156
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 2.513826043237808e-4
allele num: 3978
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16966
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.96763e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.396e0

VQSLOD
type: SiteQuality
SIO_000300: -1.682e0

MQ
type: SiteQuality
SIO_000300: 5.805e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.21e-2

QD
type: SiteQuality
SIO_000300: 1.725e1

GenotypeQuality
all individuals: 2585
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 534
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.39e-2

DP
type: SiteQuality
SIO_000300: 6.90907e5

QD
type: SiteQuality
SIO_000300: 3.35e0

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

MQ
type: SiteQuality
SIO_000300: 6.045e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.549719530851606e-4
allele num: 3922
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.545e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-2

MQ
type: SiteQuality
SIO_000300: 6.093e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e0

FS
type: SiteQuality
SIO_000300: 8.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

DP
type: SiteQuality
SIO_000300: 6.83603e5

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3934
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8672
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.256e-1

DP
type: SiteQuality
SIO_000300: 6.81792e5

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -2.48e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

QD
type: SiteQuality
SIO_000300: 8.130000000000001e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 3936
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1266
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3836
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.721435316336166e-4
allele num: 2118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.297016861219196e-4
allele num: 15420
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.29e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.58e-2

FS
type: SiteQuality
SIO_000300: 2.221e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

QD
type: SiteQuality
SIO_000300: 8.59e0

DP
type: SiteQuality
SIO_000300: 6.79752e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
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variant carriers: 0

GenotypeQuality
all individuals: 107
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28406
bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 900
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variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1286
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.579979360165118e-4
allele num: 3876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.58e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

FS
type: SiteQuality
SIO_000300: 4.235e0

QD
type: SiteQuality
SIO_000300: 1.138e1

DP
type: SiteQuality
SIO_000300: 6.81435e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

GenotypeQuality
all individuals: 103
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variant carriers: 0

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

GenotypeQuality
all individuals: 3206
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4175
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.437491953135059e-5
allele num: 15534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3898
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2152
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.325e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.49e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 1.086e0

DP
type: SiteQuality
SIO_000300: 6.80095e5

GenotypeQuality
all individuals: 3209
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1883
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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: 29451
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 2855
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variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 775
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GenotypeQuality
all individuals: 401
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variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4393
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 542
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variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1220
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3856
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 2.589667227761233e-4
allele num: 15446
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-2

FS
type: SiteQuality
SIO_000300: 1.094e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

MQRankSum
type: SiteQuality
SIO_000300: 4.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

QD
type: SiteQuality
SIO_000300: 1.234e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.80329e5

GenotypeQuality
all individuals: 904
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 927
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12803
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 544
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 29307
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variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 2856
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
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GenotypeQuality
all individuals: 510
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3209
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4391
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3824
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 9.560229445506692e-4
allele num: 2092
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15330
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

FS
type: SiteQuality
SIO_000300: 5.72e-1

QD
type: SiteQuality
SIO_000300: 1.127e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.59e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.323e0

DP
type: SiteQuality
SIO_000300: 6.79792e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

GenotypeDepth
all individuals: 34
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 930
bin: 6.75e1
variant carriers: 8

GenotypeQuality
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GenotypeQuality
all individuals: 243
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8

GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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bin: 9.25e1
variant carriers: 17

GenotypeQuality
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bin: 7.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3433
bin: 9.75e1
variant carriers: 234

GenotypeQuality
all individuals: 679
bin: 3.25e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 4.983388704318937e-3
allele num: 1204
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.513703443429375e-4
allele num: 8538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 7.177345687067728e-4
allele num: 15326
num of homozygotes: 0

African
type: Population
allele count: 184
allele frequency: 4.674796747967479e-2
allele num: 3936
num of homozygotes: 2

East Asian
type: Population
allele count: 26
allele frequency: 1.260911736178467e-2
allele num: 2062
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.787878787878788e-3
allele num: 264
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.19e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

DP
type: SiteQuality
SIO_000300: 6.82294e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 515
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GenotypeQuality
all individuals: 3843
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1064
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.699784017278618e-4
allele num: 3704
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.61e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.6e-2

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.56591e5

QD
type: SiteQuality
SIO_000300: 8.539999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 273
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 25588
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.699784017278618e-4
allele num: 3704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1894
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.879699248120301e-3
allele num: 1064
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 6.56591e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.6e-2

MQRankSum
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SIO_000300: 1.35e-1

BaseQRankSum
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SIO_000300: 1.35e-1

ClippingRankSum
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SIO_000300: 3.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.17e-1

QD
type: SiteQuality
SIO_000300: 8.539999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.61e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 4
allele frequency: 2.81214848143982e-4
allele num: 14224
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1060
num of homozygotes: 0

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

ClippingRankSum
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FS
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MQ
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 2.62e-2

ReadPosRankSum
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SIO_000300: -1.83e-1

BaseQRankSum
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SIO_000300: -9.56e-1

QD
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SIO_000300: 8.050000000000001e0

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3690
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8450
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: 254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1880
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 7.030371203599551e-5
allele num: 14224
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 2.62e-2

ClippingRankSum
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SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -9.56e-1

MQ
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SIO_000300: 6.0e1

QD
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MQRankSum
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DP
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SIO_000300: 6.56738e5

VQSLOD
type: SiteQuality
SIO_000300: -3.75e-1

ReadPosRankSum
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SIO_000300: -1.83e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 542
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1902
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14228
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.16e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e-1

DP
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SIO_000300: 6.56506e5

MQRankSum
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SIO_000300: 5.73e-1

BaseQRankSum
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SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.065e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.058159232072275e-5
allele num: 14168
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1048
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
type: Population
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ReadPosRankSum
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SIO_000300: -2.44e-1

VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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QD
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DP
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SIO_000300: 6.55305e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1800
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 14130
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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DP
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SIO_000300: 6.53331e5

FS
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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VQSLOD
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MQ
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QD
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ReadPosRankSum
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SIO_000300: 7.94e-1

BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1802
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 252
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 2.376425855513308e-4
allele num: 8416
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 14072
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 7.228567297961544e-5
allele num: 13834
num of homozygotes: 0

InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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ReadPosRankSum
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MQRankSum
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SIO_000300: -5.72e-1

FS
type: SiteQuality
SIO_000300: 3.218e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.36e-1

QD
type: SiteQuality
SIO_000300: 1.018e1

GenotypeDepth
all individuals: 73
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4018
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 18348
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25180
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2607
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 917
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3219
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1002
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.195314367678699e-4
allele num: 8366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13694
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.52e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.39444e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

GenotypeDepth
all individuals: 431
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24792
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2442
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3960
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3217
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1010
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.196458482890644e-4
allele num: 8358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13582
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.35795e5

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.399999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.15e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.62e-2

FS
type: SiteQuality
SIO_000300: 1.343e0

VQSLOD
type: SiteQuality
SIO_000300: -4.457e-1

GenotypeDepth
all individuals: 703
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21594
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3218
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22417
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2176
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3796
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.096491228070175e-3
allele num: 912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12990
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.11716e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 2.058e0

QD
type: SiteQuality
SIO_000300: 1.37e1

MQ
type: SiteQuality
SIO_000300: 5.739e1

VQSLOD
type: SiteQuality
SIO_000300: -9.955000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.18e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-2

GenotypeDepth
all individuals: 163
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
all individuals: 3154
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25764
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1916
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3217
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3668
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18205
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 8.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.597e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.78e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 5.86904e5

QD
type: SiteQuality
SIO_000300: 6.7e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
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variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 511
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variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16790
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3219
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 533
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3591
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 7.451564828614009e-4
allele num: 1342
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.80609e5

QD
type: SiteQuality
SIO_000300: 1.108e1

FS
type: SiteQuality
SIO_000300: 3.096e0

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.683e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.04e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e-1