11-18105081-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105081
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105081
    reference: chr 11
allele count: 1
allele frequency: 1.02812962658332e-5
allele num: 97264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2031G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1245+1G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2031G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.215+1G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1239+1G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.451G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.270+1G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*178+1G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1236+1G>A
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27460
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1239+1G>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

11-18105082-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105082
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105082
    reference: chr 11
allele count: 1
allele frequency: 1.022599447796298e-5
allele num: 97790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1236G>A
  hgvsp: ENST00000300013.4:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1239G>A
  hgvsp: ENST00000524803.1:c.1239G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.450G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2032G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.215G>A
  hgvsp: ENST00000532452.1:c.215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.270G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*178G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2032G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1245G>A
  hgvsp: ENST00000529318.1:c.1245G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1239G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff

11-18105091-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105091
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105091
    reference: chr 11
allele count: 2
allele frequency: 1.968697706467172e-5
allele num: 101590
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1230A>G
  hgvsp: ENST00000524803.1:c.1230A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.206A>G
  hgvsp: ENST00000532452.1:c.206A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2041A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1227A>G
  hgvsp: ENST00000300013.4:c.1227A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.441A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2041A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*169A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1236A>G
  hgvsp: ENST00000529318.1:c.1236A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.261A>G
  variant of: http://identifiers.org/hgnc/25158
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 6.75e1
  variant carriers: 0
hgvs: c.206A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

11-18105092-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105092
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105092
    reference: chr 11
allele count: 3
allele frequency: 2.941522532062596e-5
allele num: 101988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2042C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*168C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1235C>T
  hgvsp: ENSP00000432216.1:p.Ala412Val
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.205C>T
  hgvsp: ENSP00000433946.1:p.Ala69Val
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1229C>T
  hgvsp: ENSP00000432487.1:p.Ala410Val
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.440C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1226C>T
  hgvsp: ENSP00000300013.4:p.Ala409Val
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.260C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2042C>T
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29154
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4550
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 28035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala410Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

11-18105093-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105093
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105093
    reference: chr 11
allele count: 2
allele frequency: 1.952248013587646e-5
allele num: 102446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*167G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1228G>A
  hgvsp: ENSP00000432487.1:p.Ala410Thr
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.259G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2043G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204G>A
  hgvsp: ENSP00000433946.1:p.Ala69Thr
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.439G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2043G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1234G>A
  hgvsp: ENSP00000432216.1:p.Ala412Thr
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1225G>A
  hgvsp: ENSP00000300013.4:p.Ala409Thr
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29198
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4550
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala410Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

11-18105100-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105100
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105100
    reference: chr 11
allele count: 2
allele frequency: 1.898577965104137e-5
allele num: 105342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*160T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2050T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1218T>C
  hgvsp: ENST00000300013.4:c.1218T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1227T>C
  hgvsp: ENST00000529318.1:c.1227T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-7T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2050T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.432T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.252T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1221T>C
  hgvsp: ENST00000524803.1:c.1221T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 9.25e1
  variant carriers: 0
hgvs: c.204-7T>C
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP

11-18105127-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105127
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105127
    reference: chr 11
allele count: 1
allele frequency: 8.661608287426809e-6
allele num: 115452
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.225T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1200T>C
  hgvsp: ENST00000529318.1:c.1200T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1194T>C
  hgvsp: ENST00000524803.1:c.1194T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*133T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-34T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.405T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1191T>C
  hgvsp: ENST00000300013.4:c.1191T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2077T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2077T>C
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp398Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-18105130-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105130
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105130
    reference: chr 11
allele count: 1
allele frequency: 8.598008701184805e-6
allele num: 116306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1188G>A
  hgvsp: ENST00000300013.4:c.1188G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1197G>A
  hgvsp: ENST00000529318.1:c.1197G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2080G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2080G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.222G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*130G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1191G>A
  hgvsp: ENST00000524803.1:c.1191G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-37G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.402G>A
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys397Lys
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

11-18105133-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105133
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105133
    reference: chr 11
allele count: 1
allele frequency: 8.543941491088669e-6
allele num: 117042
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1188A>T
  hgvsp: ENSP00000432487.1:p.Leu396Phe
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1194A>T
  hgvsp: ENSP00000432216.1:p.Leu398Phe
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2083A>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.399A>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1185A>T
  hgvsp: ENSP00000300013.4:p.Leu395Phe
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*127A>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2083A>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-40A>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.219A>T
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu396Phe
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

11-18105140-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105140
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105140
    reference: chr 11
allele count: 5
allele frequency: 4.224899869873084e-5
allele num: 118346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*120A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.212A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2090A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1178A>G
  hgvsp: ENSP00000300013.4:p.Lys393Arg
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1187A>G
  hgvsp: ENSP00000432216.1:p.Lys396Arg
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2090A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-47A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.392A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1181A>G
  hgvsp: ENSP00000432487.1:p.Lys394Arg
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39412
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys394Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

11-18105145-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105145
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105145
    reference: chr 11
allele count: 1
allele frequency: 8.396164631996104e-6
allele num: 119102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.207C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1182C>T
  hgvsp: ENST00000529318.1:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1176C>T
  hgvsp: ENST00000524803.1:c.1176C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2095C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1173C>T
  hgvsp: ENST00000300013.4:c.1173C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2095C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-52C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*115C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.387C>T
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4735
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His392His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-18105149-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105149
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105149
    reference: chr 11
allele count: 1
allele frequency: 8.369181326682624e-6
allele num: 119486
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1178T>C
  hgvsp: ENSP00000432216.1:p.Phe393Ser
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1169T>C
  hgvsp: ENSP00000300013.4:p.Phe390Ser
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2099T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.203T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1172T>C
  hgvsp: ENSP00000432487.1:p.Phe391Ser
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-56T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.383T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2099T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*111T>C
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11144
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4799
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe391Ser
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/11-18105150-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105150
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105150
    reference: chr 11
allele count: 1
allele frequency: 8.36344172353807e-6
allele num: 119568
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1171T>G
  hgvsp: ENSP00000432487.1:p.Phe391Val
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2100T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-57T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.202T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2100T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*110T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1168T>G
  hgvsp: ENSP00000300013.4:p.Phe390Val
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.382T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1177T>G
  hgvsp: ENSP00000432216.1:p.Phe393Val
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe391Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

11-18105166-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105166
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105166
    reference: chr 11
allele count: 1
allele frequency: 8.303440945927993e-6
allele num: 120432
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1155T>C
  hgvsp: ENST00000524803.1:c.1155T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1152T>C
  hgvsp: ENST00000300013.4:c.1152T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2116T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.186T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1161T>C
  hgvsp: ENST00000529318.1:c.1161T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-73T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.366T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*94T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2116T>C
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4932
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp385Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

11-18105167-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105167
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105167
    reference: chr 11
allele count: 4
allele frequency: 3.320714617785747e-5
allele num: 120456
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2117A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-74A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2117A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1160A>G
  hgvsp: ENSP00000432216.1:p.Asp387Gly
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1151A>G
  hgvsp: ENSP00000300013.4:p.Asp384Gly
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1154A>G
  hgvsp: ENSP00000432487.1:p.Asp385Gly
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.365A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.185A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*93A>G
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp385Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

11-18105173-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105173
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105173
    reference: chr 11
allele count: 2
allele frequency: 1.657412778652524e-5
allele num: 120670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-80G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.179G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1154G>A
  hgvsp: ENSP00000432216.1:p.Arg385Lys
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1148G>A
  hgvsp: ENSP00000432487.1:p.Arg383Lys
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*87G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.359G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1145G>A
  hgvsp: ENSP00000300013.4:p.Arg382Lys
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2123G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2123G>A
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg383Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD

11-18105177-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105177
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105177
    reference: chr 11
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2127A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1150A>G
  hgvsp: ENSP00000432216.1:p.Lys384Glu
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1144A>G
  hgvsp: ENSP00000432487.1:p.Lys382Glu
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1141A>G
  hgvsp: ENSP00000300013.4:p.Lys381Glu
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-84A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2127A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.175A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.355A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*83A>G
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys382Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

11-18105184-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105184
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105184
    reference: chr 11
allele count: 32
allele frequency: 2.646509089104653e-4
allele num: 120914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-91G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1143G>A
  hgvsp: ENST00000529318.1:c.1143G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2134G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1137G>A
  hgvsp: ENST00000524803.1:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1134G>A
  hgvsp: ENST00000300013.4:c.1134G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*76G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2134G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.348G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.168G>A
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 39444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12065
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu379Glu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

11-18105192-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105192
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105192
    reference: chr 11
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2142A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.340A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2142A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1129A>G
  hgvsp: ENSP00000432487.1:p.Asn377Asp
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.160A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-99A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*68A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1135A>G
  hgvsp: ENSP00000432216.1:p.Asn379Asp
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1126A>G
  hgvsp: ENSP00000300013.4:p.Asn376Asp
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn377Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

11-18105194-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105194
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105194
    reference: chr 11
allele count: 1
allele frequency: 8.260366760284156e-6
allele num: 121060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1133C>T
  hgvsp: ENSP00000432216.1:p.Ser378Phe
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-101C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2144C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.158C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1124C>T
  hgvsp: ENSP00000300013.4:p.Ser375Phe
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*66C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.338C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1127C>T
  hgvsp: ENSP00000432487.1:p.Ser376Phe
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2144C>T
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5022
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser376Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

11-18105199-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105199
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105199
    reference: chr 11
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2149A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2149A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*61A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1119A>G
  hgvsp: ENST00000300013.4:c.1119A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1128A>G
  hgvsp: ENST00000529318.1:c.1128A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.153A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1122A>G
  hgvsp: ENST00000524803.1:c.1122A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.333A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-106A>G
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala374Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

11-18105200-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105200
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105200
    reference: chr 11
allele count: 1
allele frequency: 8.257911078813503e-6
allele num: 121096
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1121C>T
  hgvsp: ENSP00000432487.1:p.Ala374Val
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.332C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1118C>T
  hgvsp: ENSP00000300013.4:p.Ala373Val
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-107C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2150C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1127C>T
  hgvsp: ENSP00000432216.1:p.Ala376Val
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*60C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2150C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.152C>T
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4589
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5017
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala374Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

11-18105202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105202
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105202
    reference: chr 11
allele count: 53
allele frequency: 4.376476028471867e-4
allele num: 121102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1125G>A
  hgvsp: ENST00000529318.1:c.1125G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2152G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1119G>A
  hgvsp: ENST00000524803.1:c.1119G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*58G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1116G>A
  hgvsp: ENST00000300013.4:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.150G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-109G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.330G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2152G>A
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12257
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5009
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser373Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

11-18105203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105203
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105203
    reference: chr 11
allele count: 5
allele frequency: 4.128614602084125e-5
allele num: 121106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-110C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2153C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1124C>T
  hgvsp: ENSP00000432216.1:p.Ser375Leu
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.149C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1118C>T
  hgvsp: ENSP00000432487.1:p.Ser373Leu
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*57C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1115C>T
  hgvsp: ENSP00000300013.4:p.Ser372Leu
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.329C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2153C>T
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser373Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

11-18105204-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105204
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105204
    reference: chr 11
allele count: 5
allele frequency: 4.128273721060801e-5
allele num: 121116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1123T>C
  hgvsp: ENSP00000432216.1:p.Ser375Pro
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1117T>C
  hgvsp: ENSP00000432487.1:p.Ser373Pro
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.328T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1114T>C
  hgvsp: ENSP00000300013.4:p.Ser372Pro
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*56T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.148T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2154T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-111T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2154T>C
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser373Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

11-18105205-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105205
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105205
    reference: chr 11
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1116C>G
  hgvsp: ENSP00000432487.1:p.Asn372Lys
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-112C>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.147C>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.327C>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2155C>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*55C>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1122C>G
  hgvsp: ENSP00000432216.1:p.Asn374Lys
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1113C>G
  hgvsp: ENSP00000300013.4:p.Asn371Lys
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2155C>G
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn372Lys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/11-18105208-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105208
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105208
    reference: chr 11
allele count: 3
allele frequency: 2.476841531678803e-5
allele num: 121122
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1113G>T
  hgvsp: ENSP00000432487.1:p.Glu371Asp
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-115G>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1119G>T
  hgvsp: ENSP00000432216.1:p.Glu373Asp
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.324G>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*52G>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.144G>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1110G>T
  hgvsp: ENSP00000300013.4:p.Glu370Asp
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2158G>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2158G>T
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu371Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

11-18105213-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105213
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105213
    reference: chr 11
allele count: 90
allele frequency: 7.430033847931974e-4
allele num: 121130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2163C>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1108C>A
  hgvsp: ENSP00000432487.1:p.Pro370Thr
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*47C>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2163C>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1105C>A
  hgvsp: ENSP00000300013.4:p.Pro369Thr
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.319C>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-120C>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1114C>A
  hgvsp: ENSP00000432216.1:p.Pro372Thr
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.139C>A
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39197
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12336
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro370Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

11-18105214-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105214
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105214
    reference: chr 11
allele count: 4
allele frequency: 3.30234631705827e-5
allele num: 121126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.318A>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.138A>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1107A>C
  hgvsp: ENSP00000432487.1:p.Lys369Asn
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*46A>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2164A>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1113A>C
  hgvsp: ENSP00000432216.1:p.Lys371Asn
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1104A>C
  hgvsp: ENSP00000300013.4:p.Lys368Asn
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2164A>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-121A>C
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4606
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys369Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

11-18105223-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105223
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105223
    reference: chr 11
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1095T>A
  hgvsp: ENSP00000300013.4:p.Cys365Ter
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1104T>A
  hgvsp: ENSP00000432216.1:p.Cys368Ter
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-130T>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1098T>A
  hgvsp: ENSP00000432487.1:p.Cys366Ter
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2173T>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.309T>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.129T>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*37T>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2173T>A
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44571
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys366Ter
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-18105240-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105240
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105240
    reference: chr 11
allele count: 3
allele frequency: 2.478970070568015e-5
allele num: 121018
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1087C>G
  hgvsp: ENSP00000432216.1:p.Gln363Glu
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*20C>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.292C>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1078C>G
  hgvsp: ENSP00000300013.4:p.Gln360Glu
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.112C>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2190C>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1081C>G
  hgvsp: ENSP00000432487.1:p.Gln361Glu
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2190C>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-147C>G
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5027
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln361Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD

11-18105248-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105248
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105248
    reference: chr 11
allele count: 2
allele frequency: 1.654013463669594e-5
allele num: 120918
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1073G>A
  hgvsp: ENSP00000432487.1:p.Arg358Gln
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1079G>A
  hgvsp: ENSP00000432216.1:p.Arg360Gln
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1070G>A
  hgvsp: ENSP00000300013.4:p.Arg357Gln
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2198G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*12G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.284G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.104G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2198G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-155G>A
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg358Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum

11-18105255-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105255
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105255
    reference: chr 11
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1072C>T
  hgvsp: ENSP00000432216.1:p.Leu358Phe
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1063C>T
  hgvsp: ENSP00000300013.4:p.Leu355Phe
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1066C>T
  hgvsp: ENSP00000432487.1:p.Leu356Phe
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.277C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-162C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2205C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.97C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2205C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4991
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu356Phe
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

11-18105263-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105263
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105263
    reference: chr 11
allele count: 1
allele frequency: 8.30137304710199e-6
allele num: 120462
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.269T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2213T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.96-7T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1058T>C
  hgvsp: ENSP00000432487.1:p.Ile353Thr
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1064T>C
  hgvsp: ENSP00000432216.1:p.Ile355Thr
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1055T>C
  hgvsp: ENSP00000300013.4:p.Ile352Thr
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2213T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-170T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1059T>C
  hgvsp: ENST00000531581.1:c.1059T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12431
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile353Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

11-18105264-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105264
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105264
    reference: chr 11
allele count: 1
allele frequency: 8.304682179812978e-6
allele num: 120414
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.96-8A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1058A>G
  hgvsp: ENSP00000431160.1:p.Asn353Ser
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2214A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1054A>G
  hgvsp: ENSP00000300013.4:p.Ile352Val
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1063A>G
  hgvsp: ENSP00000432216.1:p.Ile355Val
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1057A>G
  hgvsp: ENSP00000432487.1:p.Ile353Val
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.268A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2214A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-171A>G
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile353Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

11-18105265-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105265
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105265
    reference: chr 11
allele count: 1
allele frequency: 8.308822307526131e-6
allele num: 120354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1062A>G
  hgvsp: ENST00000529318.1:c.1062A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-172A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.267A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2215A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.96-9A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2215A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1053A>G
  hgvsp: ENST00000300013.4:c.1053A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1057A>G
  hgvsp: ENSP00000431160.1:p.Asn353Asp
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1056A>G
  hgvsp: ENST00000524803.1:c.1056A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4932
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn353Asp
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD

11-18105279-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105279
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105278
    reference: chr 11
allele count: 1
allele frequency: 8.356452852893003e-6
allele num: 119668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1043-5delA
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-187delA
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1052-5delA
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.96-24delA
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1047-5delA
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1043-2delA
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2230delA
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2230delA
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.254-2delA
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1043-2delA
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: CT
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

11-18105280-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105280
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105280
    reference: chr 11
allele count: 12
allele frequency: 1.003076100040123e-4
allele num: 119632
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1043-2A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1047-5A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2230A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.96-24A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1043-5A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.254-2A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1052-5A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-187A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2230A>G
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35869
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1043-2A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

11-18105302-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105302
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105302
    reference: chr 11
allele count: 44255
allele frequency: 3.755707181288932e-1
allele num: 117834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1043-27A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1043-24A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2252A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.254-24A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1052-27A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2252A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1047-27A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-209A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.96-46A>G
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 7.5e0
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.25e1
  variant carriers: 1500
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 1.75e1
  variant carriers: 2395
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.25e1
  variant carriers: 692
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 9321
  bin: 2.75e1
  variant carriers: 5038
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 5.75e1
  variant carriers: 1032
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 530
genotype depth: GenotypeDepth
  all individuals: 15518
  bin: 2.25e1
  variant carriers: 3776
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 9.75e1
  variant carriers: 1608
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 247
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 3.25e1
  variant carriers: 5363
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.25e1
  variant carriers: 275
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 4.75e1
  variant carriers: 2467
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 1.25e1
  variant carriers: 1088
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.25e1
  variant carriers: 457
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 3.75e1
  variant carriers: 4892
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.75e1
  variant carriers: 340
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 4.25e1
  variant carriers: 3735
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.25e1
  variant carriers: 253
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 7.75e1
  variant carriers: 520
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.5e0
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 4.75e1
  variant carriers: 239
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.75e1
  variant carriers: 206
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 3.25e1
  variant carriers: 94
num of homozygotes: 8728
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

11-18105304-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105304
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105304
    reference: chr 11
allele count: 1
allele frequency: 8.679651425198764e-6
allele num: 115212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1047-29C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2254C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-211C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1043-29C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1052-29C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1043-26C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.254-26C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.96-48C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2254C>T
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

11-18105311-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105311
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105311
    reference: chr 11
allele count: 1
allele frequency: 8.789508842245894e-6
allele num: 113772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2261G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1047-36G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1052-36G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-218G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.254-33G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.96-55G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1043-33G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1043-36G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2261G>A
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13344
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12535
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4946
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

11-18105314-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105314
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105314
    reference: chr 11
allele count: 1
allele frequency: 8.865877012554082e-6
allele num: 112792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1047-39C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2264C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1043-39C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1043-36C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.96-58C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1052-39C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.254-36C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2264C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-221C>T
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11062
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5014
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

11-18105320-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18105320
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18105320
    reference: chr 11
allele count: 1
allele frequency: 8.913609298677221e-6
allele num: 112188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1052-45A>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.365-2270A>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.710-2270A>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.96-64A>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1043-42A>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1043-45A>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.254-42A>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-227A>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1047-45A>T
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14775
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7516
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

11-18108356-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108356
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108356
    reference: chr 11
allele count: 1
allele frequency: 9.008035167369294e-6
allele num: 111012
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1051+48A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3263A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.709+57A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.95+57A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1042+57A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1046+53A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1042+57A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.253+57A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+334A>G
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-18108361-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108361
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108361
    reference: chr 11
allele count: 10
allele frequency: 8.990218642117377e-5
allele num: 111232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1051+43C>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.709+52C>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1042+52C>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+329C>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.253+52C>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1046+48C>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.95+52C>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3268C>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1042+52C>G
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8225
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 7.25e1
  variant carriers: 0
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: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

11-18108362-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108362
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108362
    reference: chr 11
allele count: 1
allele frequency: 8.986663790934254e-6
allele num: 111276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1051+42C>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+328C>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1042+51C>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.95+51C>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1042+51C>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3269C>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.709+51C>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.253+51C>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1046+47C>A
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/11-18108368-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108368
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108368
    reference: chr 11
allele count: 1
allele frequency: 8.958325868061777e-6
allele num: 111628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3275T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1051+36T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.253+45T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.709+45T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1042+45T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.95+45T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1042+45T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1046+41T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+322T>G
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-18108372-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108372
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108372
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 111898
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1042+41T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1042+41T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.253+41T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3279T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1051+32T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1046+37T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.95+41T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.709+41T>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+318T>G
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25042
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ

11-18108375-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108375
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108375
    reference: chr 11
allele count: 367
allele frequency: 3.268381305215161e-3
allele num: 112288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.95+38T>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.253+38T>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1042+38T>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.709+38T>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3282T>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1046+34T>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1051+29T>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+315T>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1042+38T>A
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 7.5e0
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 4.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 18060
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 3.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 14492
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 4.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 8469
  bin: 3.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2088
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 12189
  bin: 9.75e1
  variant carriers: 353
num of homozygotes: 10
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum

11-18108382-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108382
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108382
    reference: chr 11
allele count: 1
allele frequency: 8.858180529719195e-6
allele num: 112890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1042+31T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+308T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.95+31T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1042+31T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1051+22T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1046+27T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.709+31T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.253+31T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3289T>C
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5458
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

11-18108388-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108388
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108388
    reference: chr 11
allele count: 1
allele frequency: 8.791827117511561e-6
allele num: 113742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3295A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1042+25A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.709+25A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.95+25A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.253+25A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1042+25A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+302A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1051+16A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1046+21A>G
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-18108399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108399
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108399
    reference: chr 11
allele count: 1
allele frequency: 8.621432882145012e-6
allele num: 115990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.253+14C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1051+5C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.95+14C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3306C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1042+14C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1046+10C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1042+14C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.709+14C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+291C>T
  variant of: http://identifiers.org/hgnc/25158
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27813
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5627
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12058
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1051+5C>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-18108404-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108404
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108404
    reference: chr 11
allele count: 375
allele frequency: 3.209077839392072e-3
allele num: 116856
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.95+9A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.709+9A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1046+5A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1042+9A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1042+9A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1051A>G
  hgvsp: ENSP00000432216.1:p.Asn351Asp
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3311A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+286A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.253+9A>G
  variant of: http://identifiers.org/hgnc/25158
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 5.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 4.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 8604
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 17109
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 18617
  bin: 2.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn351Asp
num of homozygotes: 6
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP

11-18108405-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108405
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108405
    reference: chr 11
allele count: 1
allele frequency: 8.542919628212137e-6
allele num: 117056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1046+4C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1042+8C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.709+8C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.253+8C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+285C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1050C>T
  hgvsp: ENST00000529318.1:c.1050C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.95+8C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1042+8C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3312C>T
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12088
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1042+8C>T
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

11-18108413-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108413
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108413
    reference: chr 11
allele count: 1
allele frequency: 8.451370812345762e-6
allele num: 118324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.253G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1042G>A
  hgvsp: ENSP00000432216.1:p.Gly348Ser
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3320G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.95G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.709G>A
  hgvsp: ENSP00000436031.1:p.Gly237Arg
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1042G>A
  hgvsp: ENSP00000432487.1:p.Val348Ile
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1042G>A
  hgvsp: ENSP00000300013.4:p.Asp348Asn
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+277G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1042G>A
  hgvsp: ENSP00000431160.1:p.Gly348Ser
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val348Ile
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

11-18108433-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108433
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108433
    reference: chr 11
allele count: 1
allele frequency: 8.323899580475461e-6
allele num: 120136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.233A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3340A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1022A>G
  hgvsp: ENSP00000432487.1:p.Glu341Gly
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1022A>G
  hgvsp: ENSP00000431160.1:p.Glu341Gly
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1022A>G
  hgvsp: ENSP00000300013.4:p.Glu341Gly
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.689A>G
  hgvsp: ENSP00000436031.1:p.Glu230Gly
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.75A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1022A>G
  hgvsp: ENSP00000432216.1:p.Glu341Gly
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+257A>G
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19382
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12095
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu341Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

11-18108436-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108436
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108436
    reference: chr 11
allele count: 1
allele frequency: 8.31282835672009e-6
allele num: 120296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1019A>T
  hgvsp: ENSP00000431160.1:p.Gln340Leu
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.686A>T
  hgvsp: ENSP00000436031.1:p.Gln229Leu
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.230A>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+254A>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3343A>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1019A>T
  hgvsp: ENSP00000300013.4:p.Gln340Leu
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.72A>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1019A>T
  hgvsp: ENSP00000432487.1:p.Gln340Leu
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1019A>T
  hgvsp: ENSP00000432216.1:p.Gln340Leu
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln340Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum

11-18108436-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108436
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108436
    reference: chr 11
allele count: 1
allele frequency: 8.31282835672009e-6
allele num: 120296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1019A>G
  hgvsp: ENSP00000431160.1:p.Gln340Arg
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1019A>G
  hgvsp: ENSP00000432216.1:p.Gln340Arg
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.72A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.686A>G
  hgvsp: ENSP00000436031.1:p.Gln229Arg
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3343A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1019A>G
  hgvsp: ENSP00000300013.4:p.Gln340Arg
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+254A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1019A>G
  hgvsp: ENSP00000432487.1:p.Gln340Arg
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.230A>G
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln340Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

11-18108438-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108438
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108438
    reference: chr 11
allele count: 1
allele frequency: 8.304958059961797e-6
allele num: 120410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.70G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+252G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1017G>A
  hgvsp: ENST00000524803.1:c.1017G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1017G>A
  hgvsp: ENST00000300013.4:c.1017G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3345G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.684G>A
  hgvsp: ENST00000531751.1:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1017G>A
  hgvsp: ENST00000531581.1:c.1017G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.228G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1017G>A
  hgvsp: ENST00000529318.1:c.1017G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12100
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu339Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

11-18108450-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108450
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108450
    reference: chr 11
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1005C>T
  hgvsp: ENST00000531581.1:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1005C>T
  hgvsp: ENST00000524803.1:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+240C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.216C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1005C>T
  hgvsp: ENST00000300013.4:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3357C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.58C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.672C>T
  hgvsp: ENST00000531751.1:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1005C>T
  hgvsp: ENST00000529318.1:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6029
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala335Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

11-18108452-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108452
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108452
    reference: chr 11
allele count: 1
allele frequency: 8.277734549608463e-6
allele num: 120806
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.214G>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.670G>C
  hgvsp: ENSP00000436031.1:p.Ala224Pro
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.1003G>C
  hgvsp: ENSP00000432216.1:p.Ala335Pro
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+238G>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.56G>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3359G>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.1003G>C
  hgvsp: ENSP00000432487.1:p.Ala335Pro
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.1003G>C
  hgvsp: ENSP00000300013.4:p.Ala335Pro
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.1003G>C
  hgvsp: ENSP00000431160.1:p.Ala335Pro
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala335Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

11-18108456-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108456
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108456
    reference: chr 11
allele count: 1
allele frequency: 8.272256506129742e-6
allele num: 120886
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.999C>G
  hgvsp: ENSP00000432216.1:p.Ile333Met
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.999C>G
  hgvsp: ENSP00000432487.1:p.Ile333Met
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3363C>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.666C>G
  hgvsp: ENSP00000436031.1:p.Ile222Met
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.999C>G
  hgvsp: ENSP00000300013.4:p.Ile333Met
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.999C>G
  hgvsp: ENSP00000431160.1:p.Ile333Met
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.210C>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+234C>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.52C>G
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6037
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile333Met
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS

11-18108457-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108457
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108457
    reference: chr 11
allele count: 1
allele frequency: 8.270888127967181e-6
allele num: 120906
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.665T>C
  hgvsp: ENSP00000436031.1:p.Ile222Thr
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.209T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.998T>C
  hgvsp: ENSP00000431160.1:p.Ile333Thr
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.998T>C
  hgvsp: ENSP00000432216.1:p.Ile333Thr
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+233T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3364T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.998T>C
  hgvsp: ENSP00000300013.4:p.Ile333Thr
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.51T>C
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.998T>C
  hgvsp: ENSP00000432487.1:p.Ile333Thr
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile333Thr
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD

11-18108459-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108459
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108459
    reference: chr 11
allele count: 4
allele frequency: 3.307370475103769e-5
allele num: 120942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.663C>T
  hgvsp: ENST00000531751.1:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+231C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.49C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.996C>T
  hgvsp: ENST00000529318.1:c.996C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.996C>T
  hgvsp: ENST00000531581.1:c.996C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.996C>T
  hgvsp: ENST00000524803.1:c.996C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3366C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.207C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.996C>T
  hgvsp: ENST00000300013.4:c.996C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala332Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP

11-18108463-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108463
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108463
    reference: chr 11
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.992C>T
  hgvsp: ENSP00000432216.1:p.Ser331Phe
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.992C>T
  hgvsp: ENSP00000432487.1:p.Ser331Phe
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.992C>T
  hgvsp: ENSP00000300013.4:p.Ser331Phe
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.45C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.992C>T
  hgvsp: ENSP00000431160.1:p.Ser331Phe
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.659C>T
  hgvsp: ENSP00000436031.1:p.Ser220Phe
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+227C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.203C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3370C>T
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser331Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

11-18108472-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108472
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108473
    reference: chr 11
allele count: 4
allele frequency: 3.30310987795009e-5
allele num: 121098
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+217dupT
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.982dupT
  hgvsp: ENSP00000432487.1:p.Ser328PhefsTer12
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3380dupT
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.982dupT
  hgvsp: ENSP00000431160.1:p.Ser328PhefsTer12
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.982dupT
  hgvsp: ENSP00000300013.4:p.Ser328PhefsTer12
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.35dupT
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.982dupT
  hgvsp: ENSP00000432216.1:p.Ser328PhefsTer12
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.193dupT
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.649dupT
  hgvsp: ENSP00000436031.1:p.Ser217PhefsTer12
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser328PhefsTer12
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

11-18108477-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108477
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108477
    reference: chr 11
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.978T>A
  hgvsp: ENST00000300013.4:c.978T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3384T>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.978T>A
  hgvsp: ENST00000524803.1:c.978T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.189T>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+213T>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.978T>A
  hgvsp: ENST00000531581.1:c.978T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.978T>A
  hgvsp: ENST00000529318.1:c.978T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.645T>A
  hgvsp: ENST00000531751.1:c.645T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.31T>A
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30670
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val326Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

11-18108483-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108483
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108483
    reference: chr 11
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.972C>T
  hgvsp: ENST00000300013.4:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.25C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.183C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.972C>T
  hgvsp: ENST00000529318.1:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.639C>T
  hgvsp: ENST00000531751.1:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3390C>T
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.972C>T
  hgvsp: ENST00000524803.1:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.972C>T
  hgvsp: ENST00000531581.1:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+207C>T
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala324Ala
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: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD

11-18108485-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108485
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108485
    reference: chr 11
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.637G>A
  hgvsp: ENSP00000436031.1:p.Ala213Thr
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.23G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.970G>A
  hgvsp: ENSP00000431160.1:p.Ala324Thr
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.970G>A
  hgvsp: ENSP00000432487.1:p.Ala324Thr
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+205G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3392G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.181G>A
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.970G>A
  hgvsp: ENSP00000300013.4:p.Ala324Thr
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.970G>A
  hgvsp: ENSP00000432216.1:p.Ala324Thr
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala324Thr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

11-18108492-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18108492
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 18108492
    reference: chr 11
allele count: 25373
allele frequency: 2.09185944894224e-1
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432487
  ensembl transcript: ENST00000524803
  gene symbol: SAAL1
  hgvsc: ENST00000524803.1:c.963A>G
  hgvsp: ENST00000524803.1:c.963A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000531216
  gene symbol: SAAL1
  hgvsc: ENST00000531216.1:n.174A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000436031
  ensembl transcript: ENST00000531751
  gene symbol: SAAL1
  hgvsc: ENST00000531751.1:c.630A>G
  hgvsp: ENST00000531751.1:c.630A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166788
  ensembl transcript: ENST00000534721
  gene symbol: SAAL1
  hgvsc: ENST00000534721.1:n.16A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432216
  ensembl transcript: ENST00000529318
  gene symbol: SAAL1
  hgvsc: ENST00000529318.1:c.963A>G
  hgvsp: ENST00000529318.1:c.963A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000431160
  ensembl transcript: ENST00000531581
  gene symbol: SAAL1
  hgvsc: ENST00000531581.1:c.963A>G
  hgvsp: ENST00000531581.1:c.963A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000300013
  ensembl transcript: ENST00000300013
  gene symbol: SAAL1
  hgvsc: ENST00000300013.4:c.963A>G
  hgvsp: ENST00000300013.4:c.963A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000432044
  ensembl transcript: ENST00000530436
  gene symbol: SAAL1
  hgvsc: ENST00000530436.1:c.364+198A>G
  variant of: http://identifiers.org/hgnc/25158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166788
  ensembl protein: ENSP00000433946
  ensembl transcript: ENST00000532452
  gene symbol: SAAL1
  hgvsc: ENST00000532452.1:c.204-3399A>G
  variant of: http://identifiers.org/hgnc/25158
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 3.75e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 7.75e1
  variant carriers: 1422
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.75e1
  variant carriers: 401
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.75e1
  variant carriers: 1133
genotype depth: GenotypeDepth
  all individuals: 13662
  bin: 2.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 5.75e1
  variant carriers: 736
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 9.25e1
  variant carriers: 1623
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 3.25e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 15552
  bin: 2.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 7.25e1
  variant carriers: 1271
genotype depth: GenotypeDepth
  all individuals: 10737
  bin: 9.75e1
  variant carriers: 10613
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.25e1
  variant carriers: 583
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 950
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 16
hgvs: p.Thr321Thr
num of homozygotes: 2931
reference allele: T

GenotypeQuality
all individuals: 26395
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1699
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2609
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3336
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4544
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3169
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1184
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6034
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51954
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.059316569954868e-5
allele num: 12408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9466
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.855e0

FS
type: SiteQuality
SIO_000300: 2.128e0

DP
type: SiteQuality
SIO_000300: 1.321984e6

MQRankSum
type: SiteQuality
SIO_000300: 7.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 475
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1703
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3184
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26489
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4546
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 803
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3228
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.913655848132272e-5
allele num: 52256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12508
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.728e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.462e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.94e-1

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

DP
type: SiteQuality
SIO_000300: 1.329233e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2206
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9623
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1532
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28028
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2702
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4550
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1232
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.680800942285041e-5
allele num: 54336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.375941e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.147e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 89
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9439
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2676
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3383
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.666630000366663e-5
allele num: 54546
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.047559187094071e-4
allele num: 9546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.72e-1

DP
type: SiteQuality
SIO_000300: 1.381697e6

FS
type: SiteQuality
SIO_000300: 7.892e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-1

QD
type: SiteQuality
SIO_000300: 2.03e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.349e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.484e0

GenotypeQuality
all individuals: 27789
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3412
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9206
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1449
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2629
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.389890629618682e-5
allele num: 13532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7568
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.045150501672241e-4
allele num: 9568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6176
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.56e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

FS
type: SiteQuality
SIO_000300: 1.311e0

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.945e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.63e-1

DP
type: SiteQuality
SIO_000300: 1.388147e6

GenotypeQuality
all individuals: 7964
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2286
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3673
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1311
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1805
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29757
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4556
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 614
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7772
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.406271972999578e-4
allele num: 14222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56366
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.876e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.42e-1

QD
type: SiteQuality
SIO_000300: 1.457e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.421673e6

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
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.598107840317065e-5
allele num: 62574
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11206
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.699e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

DP
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SIO_000300: 1.55196e6

InbreedingCoeff
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SIO_000300: 5.0e-4

ClippingRankSum
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SIO_000300: -6.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.423999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.2563e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10100
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.190759704691593e-4
allele num: 8398
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16000
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.169e0

ClippingRankSum
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 3.946e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.76e-1

DP
type: SiteQuality
SIO_000300: 1.564174e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.569710859259724e-5
allele num: 63706
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: -1.095e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 2.12e0

ReadPosRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.077e0

InbreedingCoeff
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SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.572421e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.192e1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64638
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.526922172584058e-4
allele num: 8506
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.162188809465122e-5
allele num: 16228
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e0

FS
type: SiteQuality
SIO_000300: 2.187e0

DP
type: SiteQuality
SIO_000300: 1.588369e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.434e1

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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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65176
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.140243153628883e-5
allele num: 16286
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-1

DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.713e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.509e0

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.72e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

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

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

South Asian
type: Population
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allele frequency: 6.125949522175937e-5
allele num: 16324
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65458
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.3322e1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 5.999999999999999e-4

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

South Asian
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allele count: 1
allele frequency: 6.122199093914534e-5
allele num: 16334
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65518
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 888
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.01e-1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66124
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 9.68429207824908e-5
allele num: 10326
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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DP
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.436350347179924e-4
allele num: 16418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66138
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-1

FS
type: SiteQuality
SIO_000300: 9.49e0

VQSLOD
type: SiteQuality
SIO_000300: -3.873e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

QD
type: SiteQuality
SIO_000300: 1.049e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.61738e6

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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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017410458344649e-5
allele num: 66282
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.302e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

DP
type: SiteQuality
SIO_000300: 1.621452e6

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.114e1

BaseQRankSum
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SIO_000300: -1.191e0

QD
type: SiteQuality
SIO_000300: 2.098e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506977304921788e-5
allele num: 66358
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.99e0

FS
type: SiteQuality
SIO_000300: 3.005e0

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 1.622524e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.234e0

QD
type: SiteQuality
SIO_000300: 1.427e1

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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variant carriers: 32

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

African
type: Population
allele count: 31
allele frequency: 2.994590417310664e-3
allele num: 10352
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.298e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.127e0

VQSLOD
type: SiteQuality
SIO_000300: 5.58e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

DP
type: SiteQuality
SIO_000300: 1.626679e6

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.226e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.143e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 1.627435e6

GenotypeQuality
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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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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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DP
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FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: -5.44e0

VQSLOD
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QD
type: SiteQuality
SIO_000300: 5.1e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

Latino
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num of homozygotes: 0

South Asian
type: Population
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allele frequency: 6.066488716330988e-5
allele num: 16484
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Other
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FS
type: SiteQuality
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MQRankSum
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VQSLOD
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MQ
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
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allele count: 0
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allele num: 8638
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

European (Finnish)
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African
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Other
type: Population
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 47
allele frequency: 7.060025235834886e-4
allele num: 66572
num of homozygotes: 0

Latino
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allele frequency: 4.334257975034674e-4
allele num: 11536
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 4.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

QD
type: SiteQuality
SIO_000300: 1.245e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

DP
type: SiteQuality
SIO_000300: 1.63168e6

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

GenotypeQuality
all individuals: 34
bin: 2.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 50
bin: 5.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
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GenotypeQuality
all individuals: 1719
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4597
bin: 9.75e1
variant carriers: 5

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.510439510920179e-5
allele num: 66574
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.95e-1

FS
type: SiteQuality
SIO_000300: 2.487e0

DP
type: SiteQuality
SIO_000300: 1.630266e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

QD
type: SiteQuality
SIO_000300: 1.323e1

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

GenotypeQuality
all individuals: 179
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.509762691498949e-5
allele num: 66580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

DP
type: SiteQuality
SIO_000300: 1.630226e6

VQSLOD
type: SiteQuality
SIO_000300: -1.569e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-1

FS
type: SiteQuality
SIO_000300: 1.3037e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

QD
type: SiteQuality
SIO_000300: 1.535e1

GenotypeQuality
all individuals: 5035
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 636
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variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.425e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.93e-1

FS
type: SiteQuality
SIO_000300: 1.026e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.845e0

DP
type: SiteQuality
SIO_000300: 1.630143e6

MQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1724
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4601
bin: 9.75e1
variant carriers: 3

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.505316273202379e-5
allele num: 66588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
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: 8638
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

FS
type: SiteQuality
SIO_000300: 1.232e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.077e0

DP
type: SiteQuality
SIO_000300: 1.630438e6

QD
type: SiteQuality
SIO_000300: 1.166e1

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 90

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1722
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44536
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003453972067878e-5
allele num: 66590
num of homozygotes: 0

East Asian
type: Population
allele count: 86
allele frequency: 9.956008335262792e-3
allele num: 8638
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
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: 1.169e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

DP
type: SiteQuality
SIO_000300: 1.634081e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.394e0

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 636
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1200
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.50558692779046e-5
allele num: 66584
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 1.631569e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

FS
type: SiteQuality
SIO_000300: 3.915e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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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bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1900
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
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: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 1.631207e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.229e1

FS
type: SiteQuality
SIO_000300: 1.962e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

GenotypeQuality
all individuals: 44376
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
all individuals: 4609
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
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GenotypeQuality
all individuals: 1719
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.830831197363603e-4
allele num: 16386
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.699999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.028e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.72e-1

DP
type: SiteQuality
SIO_000300: 1.629632e6

FS
type: SiteQuality
SIO_000300: 2.915e0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.508e1

GenotypeQuality
all individuals: 4607
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 1708
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5010
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1896
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00543984612148e-5
allele num: 66546
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.628318e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.25e-1

QD
type: SiteQuality
SIO_000300: 1.11e1

FS
type: SiteQuality
SIO_000300: 9.54e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: -3.42e-1

GenotypeQuality
all individuals: 144
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 553
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4607
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.97e-1

QD
type: SiteQuality
SIO_000300: 1.028e1

DP
type: SiteQuality
SIO_000300: 1.624362e6

FS
type: SiteQuality
SIO_000300: 4.498e0

VQSLOD
type: SiteQuality
SIO_000300: 8.080000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 552
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43120
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.239860227130913e-5
allele num: 16026
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 1.04e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.616663e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.36e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

GenotypeQuality
all individuals: 185
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1682
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 1042
bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4607
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 134
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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
all individuals: 4943
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505751972535084e-5
allele num: 66412
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16000
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.411e1

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

DP
type: SiteQuality
SIO_000300: 1.615657e6

GenotypeQuality
all individuals: 1681
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1882
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variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.25e1
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GenotypeQuality
all individuals: 551
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variant carriers: 0

GenotypeQuality
all individuals: 203
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variant carriers: 0

GenotypeQuality
all individuals: 4607
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 639
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 42765
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variant carriers: 0

GenotypeQuality
all individuals: 357
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variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15970
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506205566935775e-5
allele num: 66392
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.22e0

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

DP
type: SiteQuality
SIO_000300: 1.613866e6

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 3.008e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

QD
type: SiteQuality
SIO_000300: 1.598e1

GenotypeQuality
all individuals: 1864
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4805
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
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variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4609
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 236
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66174
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.413545407901488e-5
allele num: 15592
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.596017e6

QD
type: SiteQuality
SIO_000300: 2.965e1

FS
type: SiteQuality
SIO_000300: 1.722e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.61e-1

MQ
type: SiteQuality
SIO_000300: 6.011e1

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4815
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1660
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40650
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4619
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 226
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.662736562065421e-4
allele num: 66156
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.72951936174353e-5
allele num: 10278
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15580
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.616e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

QD
type: SiteQuality
SIO_000300: 1.25e1

DP
type: SiteQuality
SIO_000300: 1.594518e6

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 161
bin: 7.5e0
variant carriers: 24

GenotypeQuality
all individuals: 368
bin: 4.25e1
variant carriers: 146

GenotypeQuality
all individuals: 509
bin: 5.25e1
variant carriers: 294

GenotypeQuality
all individuals: 698
bin: 9.25e1
variant carriers: 543

GenotypeQuality
all individuals: 1623
bin: 6.75e1
variant carriers: 431

GenotypeQuality
all individuals: 114
bin: 1.75e1
variant carriers: 48

GenotypeQuality
all individuals: 2933
bin: 2.25e1
variant carriers: 63

GenotypeQuality
all individuals: 742
bin: 8.25e1
variant carriers: 491

GenotypeQuality
all individuals: 938
bin: 2.75e1
variant carriers: 64

GenotypeQuality
all individuals: 429
bin: 8.75e1
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GenotypeQuality
all individuals: 33094
bin: 9.75e1
variant carriers: 31620

GenotypeQuality
all individuals: 106
bin: 1.25e1
variant carriers: 39

GenotypeQuality
all individuals: 14608
bin: 6.25e1
variant carriers: 349

GenotypeQuality
all individuals: 783
bin: 3.75e1
variant carriers: 161

African
type: Population
allele count: 5297
allele frequency: 5.188050930460333e-1
allele num: 10210
num of homozygotes: 1372

East Asian
type: Population
allele count: 1431
allele frequency: 1.682737535277516e-1
allele num: 8504
num of homozygotes: 117

European (Non-Finnish)
type: Population
allele count: 27073
allele frequency: 4.145053127966439e-1
allele num: 65314
num of homozygotes: 5558

South Asian
type: Population
allele count: 5075
allele frequency: 3.390113560454242e-1
allele num: 14970
num of homozygotes: 827

Latino
type: Population
allele count: 2599
allele frequency: 2.278625284937752e-1
allele num: 11406
num of homozygotes: 327

Other
type: Population
allele count: 315
allele frequency: 3.595890410958904e-1
allele num: 876
num of homozygotes: 62

European (Finnish)
type: Population
allele count: 2465
allele frequency: 3.761061946902655e-1
allele num: 6554
num of homozygotes: 465

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.13e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.646e0

QD
type: SiteQuality
SIO_000300: 1.879e1

DP
type: SiteQuality
SIO_000300: 2.071642e6

VQSLOD
type: SiteQuality
SIO_000300: 5.88e0

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

GenotypeQuality
all individuals: 2400
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 5.75e1
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GenotypeQuality
all individuals: 362
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variant carriers: 0

GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 635
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28721
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5018
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 335
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4679
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7077
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.270612185546023e-5
allele num: 13754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64274
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -7.471e-1

DP
type: SiteQuality
SIO_000300: 1.609191e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.863e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

GenotypeQuality
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variant carriers: 1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570549063952758e-5
allele num: 63672
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.571e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

DP
type: SiteQuality
SIO_000300: 1.531217e6

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.731e-1

FS
type: SiteQuality
SIO_000300: 6.028e0

ReadPosRankSum
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SIO_000300: 4.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9850
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63302
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.833307222309259e-5
allele num: 12766
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

DP
type: SiteQuality
SIO_000300: 1.4669e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.57e-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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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.017915309446254e-4
allele num: 9824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12502
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63024
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.438611e6

QD
type: SiteQuality
SIO_000300: 4.21e0

GenotypeQuality
all individuals: 2006
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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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bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63356
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.778089887640449e-5
allele num: 11392
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.706072e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.79e0

MQRankSum
type: SiteQuality
SIO_000300: -1.109e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.768e1

VQSLOD
type: SiteQuality
SIO_000300: -4.338e-1

FS
type: SiteQuality
SIO_000300: 3.129e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-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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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: 8394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.728430476310563e-5
allele num: 63446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9532
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 6.333695258776692e-4
allele num: 11052
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.53e-2

MQ
type: SiteQuality
SIO_000300: 5.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.181e0

FS
type: SiteQuality
SIO_000300: 1.654e0

DP
type: SiteQuality
SIO_000300: 1.724275e6

QD
type: SiteQuality
SIO_000300: 1.764e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-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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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.19047619047619e-4
allele num: 8400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.7276e6

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.87e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.413e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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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: 9590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63630
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 8.962179602079225e-5
allele num: 11158
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 820
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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MQRankSum
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FS
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3622
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 820
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 119
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 25373
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 428
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 2

Other
type: Population
allele count: 2
allele frequency: 2.439024390243902e-3
allele num: 820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.753463089601964e-4
allele num: 11406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.917267314321529e-4
allele num: 63820
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.034340091021928e-4
allele num: 9668
num of homozygotes: 0

South Asian
type: Population
allele count: 337
allele frequency: 2.934006616750827e-2
allele num: 11486
num of homozygotes: 10

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.414e1

DP
type: SiteQuality
SIO_000300: 1.761814e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.599e0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12035
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2459
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variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25898
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3639
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562255897516013e-5
allele num: 64010
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11734
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.869e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-2

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: -7.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

DP
type: SiteQuality
SIO_000300: 1.772627e6

QD
type: SiteQuality
SIO_000300: 3.57e0

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3409
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
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variant carriers: 0

GenotypeQuality
all individuals: 91
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12041
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5502
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2477
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
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: 1
allele frequency: 8.239947264337508e-5
allele num: 12136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9898
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64266
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.319e0

QD
type: SiteQuality
SIO_000300: 1.715e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.783167e6

MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.658e0

GenotypeQuality
all individuals: 191
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2119
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2580
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1363
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
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GenotypeQuality
all individuals: 2498
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variant carriers: 0

GenotypeQuality
all individuals: 2137
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2993
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13570
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.735150244584206e-5
allele num: 11448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64870
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.488e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.214e0

DP
type: SiteQuality
SIO_000300: 1.805694e6

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.085e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.61e-1

GenotypeQuality
all individuals: 28169
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2193
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2480
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 12347
bin: 9.75e1
variant carriers: 366

GenotypeQuality
all individuals: 2127
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5663
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2984
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 9
allele frequency: 7.853403141361257e-4
allele num: 11460
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.959475566150178e-4
allele num: 10068
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.629629629629629e-3
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 200
allele frequency: 1.414627245720752e-2
allele num: 14138
num of homozygotes: 6

European (Non-Finnish)
type: Population
allele count: 148
allele frequency: 2.273006511856494e-3
allele num: 65112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.058681185722928e-3
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.53e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.24e0

QD
type: SiteQuality
SIO_000300: 1.361e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

FS
type: SiteQuality
SIO_000300: 1.632e0

DP
type: SiteQuality
SIO_000300: 1.825567e6

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28487
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2992
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2106
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2124
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5709
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14278
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65164
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: 868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.820105e6

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.104e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.95e-1

QD
type: SiteQuality
SIO_000300: 1.031e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 7.233e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

GenotypeQuality
all individuals: 116
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12089
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5811
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28965
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 7.5e0
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GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1361
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.612007405448295e-5
allele num: 15124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.161e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

FS
type: SiteQuality
SIO_000300: 5.904e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

DP
type: SiteQuality
SIO_000300: 1.834332e6

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

GenotypeQuality
all individuals: 3109
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30180
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
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GenotypeQuality
all individuals: 2555
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.25e1
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GenotypeQuality
all individuals: 1375
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2147
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5957
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-5
allele num: 66100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 2.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

DP
type: SiteQuality
SIO_000300: 1.854098e6

QD
type: SiteQuality
SIO_000300: 1.284e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-2

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
all individuals: 574
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2250
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30301
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12099
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2560
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3110
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2147
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5973
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16258
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.511350240304688e-5
allele num: 66166
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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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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European (Non-Finnish)
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allele frequency: 1.511350240304688e-5
allele num: 66166
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele num: 8622
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66364
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
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African
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allele count: 1
allele frequency: 9.737098344693281e-5
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South Asian
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allele frequency: 0.0e0
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ClippingRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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DP
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.506160195198361e-5
allele num: 66394
num of homozygotes: 0

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

Other
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num of homozygotes: 0

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

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

Latino
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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East Asian
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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ReadPosRankSum
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ClippingRankSum
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MQ
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FS
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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African
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European (Finnish)
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Latino
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Other
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European (Non-Finnish)
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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MQRankSum
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FS
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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South Asian
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East Asian
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African
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Other
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European (Finnish)
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MQ
type: SiteQuality
SIO_000300: 5.988e1

FS
type: SiteQuality
SIO_000300: 7.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 1.311e1

MQRankSum
type: SiteQuality
SIO_000300: 6.99e-1

DP
type: SiteQuality
SIO_000300: 1.864827e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.588e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2290
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3163
bin: 7.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.50815976918222e-5
allele num: 66546
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

FS
type: SiteQuality
SIO_000300: 4.056e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 1.086e1

MQ
type: SiteQuality
SIO_000300: 6.018e1

DP
type: SiteQuality
SIO_000300: 1.866499e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.525e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -3.311e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.385e0

DP
type: SiteQuality
SIO_000300: 1.867015e6

FS
type: SiteQuality
SIO_000300: 1.6716e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.423e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2171
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

VQSLOD
type: SiteQuality
SIO_000300: -1.532e0

DP
type: SiteQuality
SIO_000300: 1.867863e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

QD
type: SiteQuality
SIO_000300: 2.036e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 9.643201542912247e-5
allele num: 10370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

DP
type: SiteQuality
SIO_000300: 1.868114e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.514e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e-1

FS
type: SiteQuality
SIO_000300: 6.301e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.967e0