7-48018009-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018009
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018009
    reference: chr 7
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.294+5G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.294+5G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.357+5G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.294+5G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.294+5G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.294+5G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.357+5G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.118+5G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.396G>A
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13928
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17825
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5263
  bin: 7.75e1
  variant carriers: 0
hgvs: c.357+5G>A
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-48018013-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018013
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018013
    reference: chr 7
allele count: 2
allele frequency: 1.649811096629436e-5
allele num: 121226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.294+1G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.294+1G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.118+1G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.294+1G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.392G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.294+1G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.357+1G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.357+1G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.294+1G>A
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5269
  bin: 7.75e1
  variant carriers: 0
hgvs: c.357+1G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

7-48018016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018016
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018016
    reference: chr 7
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.292C>T
  hgvsp: ENST00000446009.1:c.292C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.292C>T
  hgvsp: ENST00000458191.1:c.292C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.292C>T
  hgvsp: ENST00000432325.1:c.292C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.355C>T
  hgvsp: ENST00000436444.1:c.355C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.292C>T
  hgvsp: ENST00000433977.1:c.292C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.292C>T
  hgvsp: ENST00000432627.1:c.292C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.355C>T
  hgvsp: ENST00000258774.5:c.355C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.116C>T
  hgvsp: ENST00000442024.1:c.116C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.389C>T
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9366
  bin: 6.75e1
  variant carriers: 0
hgvs: c.355C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

7-48018017-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018017
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018017
    reference: chr 7
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.291G>C
  hgvsp: ENSP00000400727.1:p.Glu97Asp
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.354G>C
  hgvsp: ENSP00000403844.1:p.Glu118Asp
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.388G>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.291G>C
  hgvsp: ENSP00000405175.1:p.Glu97Asp
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.291G>C
  hgvsp: ENSP00000398806.1:p.Glu97Asp
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.354G>C
  hgvsp: ENSP00000258774.5:p.Glu118Asp
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.291G>C
  hgvsp: ENSP00000416588.1:p.Glu97Asp
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.291G>C
  hgvsp: ENSP00000404855.1:p.Glu97Asp
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.115G>C
  hgvsp: ENSP00000404348.1:p.Glu39Asp
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu118Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

7-48018018-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018018
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018018
    reference: chr 7
allele count: 2
allele frequency: 1.649375711293276e-5
allele num: 121258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.290A>G
  hgvsp: ENSP00000405175.1:p.Glu97Gly
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.353A>G
  hgvsp: ENSP00000403844.1:p.Glu118Gly
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.290A>G
  hgvsp: ENSP00000416588.1:p.Glu97Gly
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.290A>G
  hgvsp: ENSP00000400727.1:p.Glu97Gly
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.290A>G
  hgvsp: ENSP00000404855.1:p.Glu97Gly
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.114A>G
  hgvsp: ENSP00000404348.1:p.Glu39Gly
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.290A>G
  hgvsp: ENSP00000398806.1:p.Glu97Gly
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.387A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.353A>G
  hgvsp: ENSP00000258774.5:p.Glu118Gly
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20047
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu118Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

7-48018021-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018021
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018021
    reference: chr 7
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.287T>A
  hgvsp: ENSP00000398806.1:p.Val96Glu
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.287T>A
  hgvsp: ENSP00000405175.1:p.Val96Glu
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.350T>A
  hgvsp: ENSP00000403844.1:p.Val117Glu
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.287T>A
  hgvsp: ENSP00000416588.1:p.Val96Glu
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.287T>A
  hgvsp: ENSP00000400727.1:p.Val96Glu
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.287T>A
  hgvsp: ENSP00000404855.1:p.Val96Glu
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.384T>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.111T>A
  hgvsp: ENSP00000404348.1:p.Val38Glu
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.350T>A
  hgvsp: ENSP00000258774.5:p.Val117Glu
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val117Glu
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

7-48018022-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018022
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018022
    reference: chr 7
allele count: 2
allele frequency: 1.649103712132456e-5
allele num: 121278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.286G>C
  hgvsp: ENSP00000398806.1:p.Val96Leu
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.286G>C
  hgvsp: ENSP00000404855.1:p.Val96Leu
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.349G>C
  hgvsp: ENSP00000258774.5:p.Val117Leu
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.383G>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.286G>C
  hgvsp: ENSP00000405175.1:p.Val96Leu
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.286G>C
  hgvsp: ENSP00000400727.1:p.Val96Leu
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.349G>C
  hgvsp: ENSP00000403844.1:p.Val117Leu
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.110G>C
  hgvsp: ENSP00000404348.1:p.Val38Leu
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.286G>C
  hgvsp: ENSP00000416588.1:p.Val96Leu
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val117Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

7-48018023-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018023
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018023
    reference: chr 7
allele count: 3
allele frequency: 2.47320692497939e-5
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.285C>T
  hgvsp: ENST00000432325.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.285C>T
  hgvsp: ENST00000458191.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.285C>T
  hgvsp: ENST00000433977.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.382C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.109C>T
  hgvsp: ENST00000442024.1:c.109C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.348C>T
  hgvsp: ENST00000258774.5:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.348C>T
  hgvsp: ENST00000436444.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.285C>T
  hgvsp: ENST00000446009.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.285C>T
  hgvsp: ENST00000432627.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser116Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

7-48018023-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018023
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018023
    reference: chr 7
allele count: 2
allele frequency: 1.648804616652927e-5
allele num: 121300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.285C>G
  hgvsp: ENST00000446009.1:c.285C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.382C>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.285C>G
  hgvsp: ENST00000432627.1:c.285C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.348C>G
  hgvsp: ENST00000436444.1:c.348C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.285C>G
  hgvsp: ENST00000458191.1:c.285C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.109C>G
  hgvsp: ENST00000442024.1:c.109C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.285C>G
  hgvsp: ENST00000433977.1:c.285C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.285C>G
  hgvsp: ENST00000432325.1:c.285C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.348C>G
  hgvsp: ENST00000258774.5:c.348C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11922
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ser116Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/7-48018025-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018025
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018025
    reference: chr 7
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.283T>G
  hgvsp: ENSP00000404855.1:p.Ser95Ala
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.283T>G
  hgvsp: ENSP00000398806.1:p.Ser95Ala
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.283T>G
  hgvsp: ENSP00000400727.1:p.Ser95Ala
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.346T>G
  hgvsp: ENSP00000258774.5:p.Ser116Ala
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.380T>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.283T>G
  hgvsp: ENSP00000405175.1:p.Ser95Ala
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.107T>G
  hgvsp: ENSP00000404348.1:p.Ser37Ala
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.346T>G
  hgvsp: ENSP00000403844.1:p.Ser116Ala
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.283T>G
  hgvsp: ENSP00000416588.1:p.Ser95Ala
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser116Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

7-48018029-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018029
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018029
    reference: chr 7
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.279G>A
  hgvsp: ENST00000432325.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.279G>A
  hgvsp: ENST00000433977.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.103G>A
  hgvsp: ENST00000442024.1:c.103G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.279G>A
  hgvsp: ENST00000446009.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.279G>A
  hgvsp: ENST00000432627.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.342G>A
  hgvsp: ENST00000436444.1:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.376G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.279G>A
  hgvsp: ENST00000458191.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.342G>A
  hgvsp: ENST00000258774.5:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr114Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS

7-48018030-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018030
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018030
    reference: chr 7
allele count: 4
allele frequency: 3.296956908773203e-5
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.278C>T
  hgvsp: ENSP00000398806.1:p.Thr93Met
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.278C>T
  hgvsp: ENSP00000404855.1:p.Thr93Met
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.278C>T
  hgvsp: ENSP00000400727.1:p.Thr93Met
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.375C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.341C>T
  hgvsp: ENSP00000403844.1:p.Thr114Met
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.341C>T
  hgvsp: ENSP00000258774.5:p.Thr114Met
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.102C>T
  hgvsp: ENSP00000404348.1:p.Thr35Met
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.278C>T
  hgvsp: ENSP00000405175.1:p.Thr93Met
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.278C>T
  hgvsp: ENSP00000416588.1:p.Thr93Met
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr114Met
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

7-48018034-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018034
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018034
    reference: chr 7
allele count: 3
allele frequency: 2.472310126582278e-5
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.98C>T
  hgvsp: ENSP00000404348.1:p.Leu34Phe
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.274C>T
  hgvsp: ENSP00000405175.1:p.Leu92Phe
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.337C>T
  hgvsp: ENSP00000258774.5:p.Leu113Phe
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.274C>T
  hgvsp: ENSP00000400727.1:p.Leu92Phe
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.371C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.337C>T
  hgvsp: ENSP00000403844.1:p.Leu113Phe
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.274C>T
  hgvsp: ENSP00000404855.1:p.Leu92Phe
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.274C>T
  hgvsp: ENSP00000416588.1:p.Leu92Phe
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.274C>T
  hgvsp: ENSP00000398806.1:p.Leu92Phe
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu113Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-48018038-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018038
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018038
    reference: chr 7
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.270C>T
  hgvsp: ENST00000432325.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.270C>T
  hgvsp: ENST00000446009.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.333C>T
  hgvsp: ENST00000258774.5:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.270C>T
  hgvsp: ENST00000432627.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.333C>T
  hgvsp: ENST00000436444.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.270C>T
  hgvsp: ENST00000458191.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.367C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.270C>T
  hgvsp: ENST00000433977.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.94C>T
  hgvsp: ENST00000442024.1:c.94C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4842
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro111Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS

7-48018039-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018039
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018039
    reference: chr 7
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.366C>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.269C>A
  hgvsp: ENSP00000416588.1:p.Pro90His
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.269C>A
  hgvsp: ENSP00000404855.1:p.Pro90His
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.332C>A
  hgvsp: ENSP00000403844.1:p.Pro111His
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.269C>A
  hgvsp: ENSP00000405175.1:p.Pro90His
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.93C>A
  hgvsp: ENSP00000404348.1:p.Pro32His
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.269C>A
  hgvsp: ENSP00000398806.1:p.Pro90His
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.332C>A
  hgvsp: ENSP00000258774.5:p.Pro111His
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.269C>A
  hgvsp: ENSP00000400727.1:p.Pro90His
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro111His
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

7-48018047-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018047
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018047
    reference: chr 7
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.261A>G
  hgvsp: ENST00000433977.1:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.261A>G
  hgvsp: ENST00000458191.1:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.261A>G
  hgvsp: ENST00000446009.1:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.358A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.324A>G
  hgvsp: ENST00000436444.1:c.324A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.261A>G
  hgvsp: ENST00000432627.1:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.324A>G
  hgvsp: ENST00000258774.5:c.324A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.261A>G
  hgvsp: ENST00000432325.1:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.85A>G
  hgvsp: ENST00000442024.1:c.85A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys108Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ

7-48018069-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018069
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018069
    reference: chr 7
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.63T>C
  hgvsp: ENSP00000404348.1:p.Leu22Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.302T>C
  hgvsp: ENSP00000258774.5:p.Leu101Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.239T>C
  hgvsp: ENSP00000405175.1:p.Leu80Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.239T>C
  hgvsp: ENSP00000404855.1:p.Leu80Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.336T>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.239T>C
  hgvsp: ENSP00000400727.1:p.Leu80Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.302T>C
  hgvsp: ENSP00000403844.1:p.Leu101Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.239T>C
  hgvsp: ENSP00000398806.1:p.Leu80Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.239T>C
  hgvsp: ENSP00000416588.1:p.Leu80Ser
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7961
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6642
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu101Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

7-48018084-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018084
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018083
    reference: chr 7
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.47delC
  hgvsp: ENSP00000404348.1:p.Gln17ArgfsTer6
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.223delC
  hgvsp: ENSP00000398806.1:p.Gln75ArgfsTer6
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.223delC
  hgvsp: ENSP00000405175.1:p.Gln75ArgfsTer6
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.320delC
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.223delC
  hgvsp: ENSP00000416588.1:p.Gln75ArgfsTer6
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.223delC
  hgvsp: ENSP00000404855.1:p.Gln75ArgfsTer6
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.286delC
  hgvsp: ENSP00000403844.1:p.Gln96ArgfsTer6
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.286delC
  hgvsp: ENSP00000258774.5:p.Gln96ArgfsTer6
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.223delC
  hgvsp: ENSP00000400727.1:p.Gln75ArgfsTer6
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln96ArgfsTer6
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: TG
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

7-48018102-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018102
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018102
    reference: chr 7
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.30G>C
  hgvsp: ENSP00000404348.1:p.Arg11Pro
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.206G>C
  hgvsp: ENSP00000398806.1:p.Arg69Pro
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.303G>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.206G>C
  hgvsp: ENSP00000416588.1:p.Arg69Pro
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.206G>C
  hgvsp: ENSP00000404855.1:p.Arg69Pro
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.206G>C
  hgvsp: ENSP00000400727.1:p.Arg69Pro
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.269G>C
  hgvsp: ENSP00000258774.5:p.Arg90Pro
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.269G>C
  hgvsp: ENSP00000403844.1:p.Arg90Pro
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.206G>C
  hgvsp: ENSP00000405175.1:p.Arg69Pro
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg90Pro
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

7-48018103-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018103
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018103
    reference: chr 7
allele count: 5
allele frequency: 4.11936265221045e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.268C>T
  hgvsp: ENSP00000258774.5:p.Arg90Ter
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.205C>T
  hgvsp: ENSP00000404855.1:p.Arg69Ter
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.205C>T
  hgvsp: ENSP00000398806.1:p.Arg69Ter
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.205C>T
  hgvsp: ENSP00000416588.1:p.Arg69Ter
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.29C>T
  hgvsp: ENSP00000404348.1:p.Arg11Ter
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.268C>T
  hgvsp: ENSP00000403844.1:p.Arg90Ter
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.205C>T
  hgvsp: ENSP00000405175.1:p.Arg69Ter
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.205C>T
  hgvsp: ENSP00000400727.1:p.Arg69Ter
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.302C>T
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg90Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-48018115-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018115
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018115
    reference: chr 7
allele count: 24
allele frequency: 1.977326654363301e-4
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.17G>A
  hgvsp: ENSP00000404348.1:p.Glu7Lys
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.193G>A
  hgvsp: ENSP00000405175.1:p.Glu65Lys
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.290G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.193G>A
  hgvsp: ENSP00000404855.1:p.Glu65Lys
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.256G>A
  hgvsp: ENSP00000258774.5:p.Glu86Lys
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.193G>A
  hgvsp: ENSP00000416588.1:p.Glu65Lys
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.193G>A
  hgvsp: ENSP00000400727.1:p.Glu65Lys
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.193G>A
  hgvsp: ENSP00000398806.1:p.Glu65Lys
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.256G>A
  hgvsp: ENSP00000403844.1:p.Glu86Lys
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7894
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu86Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

7-48018116-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018116
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018116
    reference: chr 7
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.192G>A
  hgvsp: ENST00000458191.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.192G>A
  hgvsp: ENST00000446009.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.192G>A
  hgvsp: ENST00000433977.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.289G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.255G>A
  hgvsp: ENST00000436444.1:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.192G>A
  hgvsp: ENST00000432325.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.16G>A
  hgvsp: ENST00000442024.1:c.16G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.255G>A
  hgvsp: ENST00000258774.5:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.192G>A
  hgvsp: ENST00000432627.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser85Ser
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

7-48018117-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018117
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018117
    reference: chr 7
allele count: 11
allele frequency: 9.062747165831795e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.254C>T
  hgvsp: ENSP00000258774.5:p.Ser85Leu
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.191C>T
  hgvsp: ENSP00000405175.1:p.Ser64Leu
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.288C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.191C>T
  hgvsp: ENSP00000400727.1:p.Ser64Leu
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.15C>T
  hgvsp: ENSP00000404348.1:p.Ser6Leu
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.191C>T
  hgvsp: ENSP00000416588.1:p.Ser64Leu
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.191C>T
  hgvsp: ENSP00000398806.1:p.Ser64Leu
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.191C>T
  hgvsp: ENSP00000404855.1:p.Ser64Leu
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.254C>T
  hgvsp: ENSP00000403844.1:p.Ser85Leu
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13702
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7886
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser85Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

7-48018117-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018117
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018117
    reference: chr 7
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.191C>G
  hgvsp: ENSP00000400727.1:p.Ser64Trp
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.191C>G
  hgvsp: ENSP00000405175.1:p.Ser64Trp
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.191C>G
  hgvsp: ENSP00000416588.1:p.Ser64Trp
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.254C>G
  hgvsp: ENSP00000258774.5:p.Ser85Trp
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.191C>G
  hgvsp: ENSP00000404855.1:p.Ser64Trp
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.254C>G
  hgvsp: ENSP00000403844.1:p.Ser85Trp
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404348
  ensembl transcript: ENST00000442024
  gene symbol: HUS1
  hgvsc: ENST00000442024.1:c.15C>G
  hgvsp: ENSP00000404348.1:p.Ser6Trp
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.288C>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.191C>G
  hgvsp: ENSP00000398806.1:p.Ser64Trp
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7886
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser85Trp
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS

7-48018137-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018137
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018137
    reference: chr 7
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.171G>A
  hgvsp: ENST00000432325.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.171G>A
  hgvsp: ENST00000433977.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.268G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.234G>A
  hgvsp: ENST00000258774.5:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.171G>A
  hgvsp: ENST00000432627.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.234G>A
  hgvsp: ENST00000436444.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.171G>A
  hgvsp: ENST00000458191.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.171G>A
  hgvsp: ENST00000446009.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7866
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11831
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20682
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu78Glu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/7-48018140-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018140
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018140
    reference: chr 7
allele count: 4
allele frequency: 3.296250515039143e-5
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.265T>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.231T>G
  hgvsp: ENSP00000403844.1:p.Asn77Lys
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.168T>G
  hgvsp: ENSP00000400727.1:p.Asn56Lys
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.168T>G
  hgvsp: ENSP00000416588.1:p.Asn56Lys
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.168T>G
  hgvsp: ENSP00000398806.1:p.Asn56Lys
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.168T>G
  hgvsp: ENSP00000404855.1:p.Asn56Lys
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.231T>G
  hgvsp: ENSP00000258774.5:p.Asn77Lys
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.168T>G
  hgvsp: ENSP00000405175.1:p.Asn56Lys
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11831
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4772
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn77Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-48018141-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018141
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018141
    reference: chr 7
allele count: 4
allele frequency: 3.29614186594591e-5
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.167A>G
  hgvsp: ENSP00000405175.1:p.Asn56Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.167A>G
  hgvsp: ENSP00000416588.1:p.Asn56Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.167A>G
  hgvsp: ENSP00000404855.1:p.Asn56Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.264A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.230A>G
  hgvsp: ENSP00000403844.1:p.Asn77Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.167A>G
  hgvsp: ENSP00000400727.1:p.Asn56Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.167A>G
  hgvsp: ENSP00000398806.1:p.Asn56Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.230A>G
  hgvsp: ENSP00000258774.5:p.Asn77Ser
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13604
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7858
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn77Ser
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

7-48018151-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018151
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018151
    reference: chr 7
allele count: 3
allele frequency: 2.472473132458627e-5
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.157G>A
  hgvsp: ENSP00000405175.1:p.Ala53Thr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.220G>A
  hgvsp: ENSP00000258774.5:p.Ala74Thr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.157G>A
  hgvsp: ENSP00000404855.1:p.Ala53Thr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.157G>A
  hgvsp: ENSP00000416588.1:p.Ala53Thr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.157G>A
  hgvsp: ENSP00000400727.1:p.Ala53Thr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.220G>A
  hgvsp: ENSP00000403844.1:p.Ala74Thr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.157G>A
  hgvsp: ENSP00000398806.1:p.Ala53Thr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.254G>A
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13564
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7853
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20720
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4756
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala74Thr
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: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/7-48018154-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018154
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018154
    reference: chr 7
allele count: 4
allele frequency: 3.296793867963405e-5
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.217T>G
  hgvsp: ENSP00000258774.5:p.Ser73Ala
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.154T>G
  hgvsp: ENSP00000405175.1:p.Ser52Ala
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.154T>G
  hgvsp: ENSP00000416588.1:p.Ser52Ala
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.154T>G
  hgvsp: ENSP00000398806.1:p.Ser52Ala
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.154T>G
  hgvsp: ENSP00000400727.1:p.Ser52Ala
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.154T>G
  hgvsp: ENSP00000404855.1:p.Ser52Ala
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.217T>G
  hgvsp: ENSP00000403844.1:p.Ser73Ala
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.251T>G
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11821
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser73Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-48018155-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018155
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018155
    reference: chr 7
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.216C>G
  hgvsp: ENST00000258774.5:c.216C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.153C>G
  hgvsp: ENST00000432627.1:c.153C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.153C>G
  hgvsp: ENST00000433977.1:c.153C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.250C>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.153C>G
  hgvsp: ENST00000432325.1:c.153C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.216C>G
  hgvsp: ENST00000436444.1:c.216C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.153C>G
  hgvsp: ENST00000446009.1:c.153C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.153C>G
  hgvsp: ENST00000458191.1:c.153C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val72Val
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/7-48018159-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018159
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018159
    reference: chr 7
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.149G>T
  hgvsp: ENSP00000400727.1:p.Gly50Val
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.149G>T
  hgvsp: ENSP00000416588.1:p.Gly50Val
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.149G>T
  hgvsp: ENSP00000404855.1:p.Gly50Val
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.246G>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.149G>T
  hgvsp: ENSP00000405175.1:p.Gly50Val
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.149G>T
  hgvsp: ENSP00000398806.1:p.Gly50Val
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.212G>T
  hgvsp: ENSP00000403844.1:p.Gly71Val
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.212G>T
  hgvsp: ENSP00000258774.5:p.Gly71Val
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7833
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11810
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly71Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-48018160-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018160
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018160
    reference: chr 7
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.148G>A
  hgvsp: ENSP00000400727.1:p.Gly50Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.211G>A
  hgvsp: ENSP00000403844.1:p.Gly71Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.148G>A
  hgvsp: ENSP00000404855.1:p.Gly50Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.148G>A
  hgvsp: ENSP00000416588.1:p.Gly50Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.148G>A
  hgvsp: ENSP00000398806.1:p.Gly50Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.245G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.148G>A
  hgvsp: ENSP00000405175.1:p.Gly50Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.211G>A
  hgvsp: ENSP00000258774.5:p.Gly71Ser
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4753
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly71Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

7-48018165-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018165
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018165
    reference: chr 7
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.143T>C
  hgvsp: ENSP00000398806.1:p.Met48Thr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.143T>C
  hgvsp: ENSP00000404855.1:p.Met48Thr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.143T>C
  hgvsp: ENSP00000416588.1:p.Met48Thr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.206T>C
  hgvsp: ENSP00000403844.1:p.Met69Thr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.206T>C
  hgvsp: ENSP00000258774.5:p.Met69Thr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.240T>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.143T>C
  hgvsp: ENSP00000405175.1:p.Met48Thr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.143T>C
  hgvsp: ENSP00000400727.1:p.Met48Thr
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met69Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

7-48018166-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018166
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018166
    reference: chr 7
allele count: 2
allele frequency: 1.648777431534517e-5
allele num: 121302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.142A>G
  hgvsp: ENSP00000398806.1:p.Met48Val
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.142A>G
  hgvsp: ENSP00000405175.1:p.Met48Val
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.142A>G
  hgvsp: ENSP00000404855.1:p.Met48Val
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.142A>G
  hgvsp: ENSP00000400727.1:p.Met48Val
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.205A>G
  hgvsp: ENSP00000403844.1:p.Met69Val
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.239A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.205A>G
  hgvsp: ENSP00000258774.5:p.Met69Val
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.142A>G
  hgvsp: ENSP00000416588.1:p.Met48Val
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11807
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met69Val
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-48018167-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018167
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018167
    reference: chr 7
allele count: 9
allele frequency: 7.420721953793638e-5
allele num: 121282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.141A>C
  hgvsp: ENSP00000400727.1:p.Gln47His
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.204A>C
  hgvsp: ENSP00000403844.1:p.Gln68His
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.238A>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.141A>C
  hgvsp: ENSP00000398806.1:p.Gln47His
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.141A>C
  hgvsp: ENSP00000404855.1:p.Gln47His
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.141A>C
  hgvsp: ENSP00000416588.1:p.Gln47His
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.204A>C
  hgvsp: ENSP00000258774.5:p.Gln68His
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.141A>C
  hgvsp: ENSP00000405175.1:p.Gln47His
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7810
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20302
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln68His
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-48018176-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018176
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018176
    reference: chr 7
allele count: 3
allele frequency: 2.474226804123711e-5
allele num: 121250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.132C>T
  hgvsp: ENST00000446009.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.195C>T
  hgvsp: ENST00000436444.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.132C>T
  hgvsp: ENST00000432325.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.132C>T
  hgvsp: ENST00000432627.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.229C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.132C>T
  hgvsp: ENST00000433977.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.132C>T
  hgvsp: ENST00000458191.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.195C>T
  hgvsp: ENST00000258774.5:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4698
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn65Asn
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

7-48018178-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018178
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018178
    reference: chr 7
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.130A>C
  hgvsp: ENSP00000398806.1:p.Asn44His
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.193A>C
  hgvsp: ENSP00000258774.5:p.Asn65His
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.130A>C
  hgvsp: ENSP00000400727.1:p.Asn44His
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.193A>C
  hgvsp: ENSP00000403844.1:p.Asn65His
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.130A>C
  hgvsp: ENSP00000405175.1:p.Asn44His
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.227A>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.130A>C
  hgvsp: ENSP00000404855.1:p.Asn44His
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.130A>C
  hgvsp: ENSP00000416588.1:p.Asn44His
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13372
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11800
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5042
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9135
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn65His
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

7-48018178-TGAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018178
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018175
    reference: chr 7
allele count: 2
allele frequency: 1.649321304283287e-5
allele num: 121262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.224_226delTTC
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.127_129delTTC
  hgvsp: ENSP00000416588.1:p.Phe43del
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.127_129delTTC
  hgvsp: ENSP00000405175.1:p.Phe43del
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.190_192delTTC
  hgvsp: ENSP00000403844.1:p.Phe64del
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.127_129delTTC
  hgvsp: ENSP00000400727.1:p.Phe43del
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.127_129delTTC
  hgvsp: ENSP00000398806.1:p.Phe43del
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.127_129delTTC
  hgvsp: ENSP00000404855.1:p.Phe43del
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.190_192delTTC
  hgvsp: ENSP00000258774.5:p.Phe64del
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20542
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe64del
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: TGAA
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

7-48018186-T-TAGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018186
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018189
    reference: chr 7
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: TAGG
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.121_122insCCT
  hgvsp: ENSP00000400727.1:p.Asn41delinsThrTyr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.121_122insCCT
  hgvsp: ENSP00000405175.1:p.Asn41delinsThrTyr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.121_122insCCT
  hgvsp: ENSP00000404855.1:p.Asn41delinsThrTyr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: protein_altering_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.184_185insCCT
  hgvsp: ENSP00000258774.5:p.Asn62delinsThrTyr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.121_122insCCT
  hgvsp: ENSP00000416588.1:p.Asn41delinsThrTyr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.184_185insCCT
  hgvsp: ENSP00000403844.1:p.Asn62delinsThrTyr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.218_219insCCT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.121_122insCCT
  hgvsp: ENSP00000398806.1:p.Asn41delinsThrTyr
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: protein altering
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20175
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn62delinsThrTyr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

7-48018187-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018187
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018187
    reference: chr 7
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.121A>T
  hgvsp: ENSP00000405175.1:p.Asn41Tyr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.184A>T
  hgvsp: ENSP00000403844.1:p.Asn62Tyr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.121A>T
  hgvsp: ENSP00000404855.1:p.Asn41Tyr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.218A>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.121A>T
  hgvsp: ENSP00000400727.1:p.Asn41Tyr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.121A>T
  hgvsp: ENSP00000398806.1:p.Asn41Tyr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.184A>T
  hgvsp: ENSP00000258774.5:p.Asn62Tyr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.121A>T
  hgvsp: ENSP00000416588.1:p.Asn41Tyr
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20085
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn62Tyr
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

7-48018190-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018190
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018190
    reference: chr 7
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.118G>A
  hgvsp: ENSP00000404855.1:p.Glu40Lys
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.118G>A
  hgvsp: ENSP00000398806.1:p.Glu40Lys
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.118G>A
  hgvsp: ENSP00000405175.1:p.Glu40Lys
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.215G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.118G>A
  hgvsp: ENSP00000416588.1:p.Glu40Lys
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.181G>A
  hgvsp: ENSP00000258774.5:p.Glu61Lys
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.181G>A
  hgvsp: ENSP00000403844.1:p.Glu61Lys
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.118G>A
  hgvsp: ENSP00000400727.1:p.Glu40Lys
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu61Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

7-48018192-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018192
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018193
    reference: chr 7
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.118-3dupT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.181-3dupT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.118-3dupT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.215-3dupT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.118-3dupT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.181-3dupT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.118-3dupT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.118-3dupT
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11786
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: c.181-3dupT
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

7-48018197-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018197
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018197
    reference: chr 7
allele count: 1
allele frequency: 8.447801037389967e-6
allele num: 118374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.118-7C>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.118-7C>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.181-7C>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.118-7C>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.215-7C>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.181-7C>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.118-7C>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.118-7C>G
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17114
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4284
  bin: 7.75e1
  variant carriers: 0
hgvs: c.181-7C>G
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-48018197-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018197
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018198
    reference: chr 7
allele count: 1
allele frequency: 8.447801037389967e-6
allele num: 118374
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.181-8dupT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.118-8dupT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.181-8dupT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.118-8dupT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.118-8dupT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.118-8dupT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.118-8dupT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.215-8dupT
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17114
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13045
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

7-48018197-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018197
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018196
    reference: chr 7
allele count: 43
allele frequency: 3.632554446077686e-4
allele num: 118374
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.181-8delT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.118-8delT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.181-8delT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.215-8delT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.118-8delT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.118-8delT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.118-8delT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.118-8delT
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7705
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 13045
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 17114
  bin: 2.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 7909
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 8.25e1
  variant carriers: 0
hgvs: c.181-8delT
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: GA
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

7-48018198-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018198
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018198
    reference: chr 7
allele count: 1
allele frequency: 8.411702360323682e-6
allele num: 118882
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.118-8T>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.181-8T>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.118-8T>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.118-8T>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.118-8T>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.181-8T>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.215-8T>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.118-8T>C
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12924
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.5e0
  variant carriers: 0
hgvs: c.181-8T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

7-48018206-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018206
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018206
    reference: chr 7
allele count: 2
allele frequency: 1.651064110819423e-5
allele num: 121134
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.118-16A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.118-16A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.118-16A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.118-16A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.215-16A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.181-16A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.118-16A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.181-16A>G
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8162
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12357
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19660
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

7-48018212-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018212
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018212
    reference: chr 7
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.118-22T>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.118-22T>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.215-22T>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.118-22T>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.118-22T>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.181-22T>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.118-22T>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.181-22T>A
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4524
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

7-48018216-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018216
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018216
    reference: chr 7
allele count: 7
allele frequency: 5.779964989926347e-5
allele num: 121108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.118-26C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.215-26C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.181-26C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.118-26C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.118-26C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.118-26C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.118-26C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.181-26C>T
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11679
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9016
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

7-48018217-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018217
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018217
    reference: chr 7
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.118-27C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.118-27C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.118-27C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.215-27C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.118-27C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.181-27C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.118-27C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.181-27C>T
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 3.25e1
  variant carriers: 0
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: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

7-48018218-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018218
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018218
    reference: chr 7
allele count: 1
allele frequency: 8.25695648583932e-6
allele num: 121110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.118-28C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.215-28C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.181-28C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.118-28C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.118-28C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.118-28C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.118-28C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.181-28C>T
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4496
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19704
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-48018227-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018227
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018227
    reference: chr 7
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.118-37A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.181-37A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.118-37A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.181-37A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.118-37A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.118-37A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.215-37A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.118-37A>G
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3394
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10518
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

7-48018236-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018236
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018236
    reference: chr 7
allele count: 65
allele frequency: 5.370835536753041e-4
allele num: 121024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.215-46A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.118-46A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.118-46A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.118-46A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.181-46A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.118-46A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.118-46A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.181-46A>G
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10992
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6946
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10471
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15678
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10562
  bin: 9.75e1
  variant carriers: 64
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

7-48018245-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018245
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018245
    reference: chr 7
allele count: 1
allele frequency: 8.26405302216419e-6
allele num: 121006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.180+41T>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.117+41T>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.117+41T>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.214+41T>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.180+41T>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.117+41T>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.117+41T>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.117+41T>C
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15319
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19283
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4372
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

7-48018251-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018251
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018249
    reference: chr 7
allele count: 1
allele frequency: 8.270204108637402e-6
allele num: 120916
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.117+33_117+34delCT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.180+33_180+34delCT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.117+33_117+34delCT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.117+33_117+34delCT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.117+33_117+34delCT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.214+33_214+34delCT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.180+33_180+34delCT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.117+33_117+34delCT
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10518
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: CAG
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

7-48018257-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018257
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018257
    reference: chr 7
allele count: 2
allele frequency: 1.653247805313538e-5
allele num: 120974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.117+29C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.117+29C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.117+29C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.117+29C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.180+29C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.117+29C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.180+29C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.214+29C>T
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6935
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10940
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

7-48018258-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018258
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018258
    reference: chr 7
allele count: 3
allele frequency: 2.479625741821368e-5
allele num: 120986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.117+28A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.214+28A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.180+28A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.117+28A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.180+28A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.117+28A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.117+28A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.117+28A>G
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14934
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10914
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

7-48018259-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018259
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018259
    reference: chr 7
allele count: 7
allele frequency: 5.787515502273667e-5
allele num: 120950
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.117+27C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.117+27C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.180+27C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.117+27C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.180+27C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.214+27C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.117+27C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.117+27C>T
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10942
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14940
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7743
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4426
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/7-48018260-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018260
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018260
    reference: chr 7
allele count: 1
allele frequency: 8.274446853227862e-6
allele num: 120854
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.180+26G>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.117+26G>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.117+26G>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.180+26G>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.117+26G>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.117+26G>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.117+26G>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.214+26G>T
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3418
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

7-48018262-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018262
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018262
    reference: chr 7
allele count: 4
allele frequency: 3.307042346677249e-5
allele num: 120954
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.117+24C>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.117+24C>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.180+24C>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.117+24C>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.117+24C>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.214+24C>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.117+24C>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.180+24C>G
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10961
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7802
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

7-48018269-CAGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018269
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018266
    reference: chr 7
allele count: 3
allele frequency: 2.480732973902689e-5
allele num: 120932
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.117+14_117+16delTCT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.117+14_117+16delTCT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.214+14_214+16delTCT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.117+14_117+16delTCT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.180+14_180+16delTCT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.180+14_180+16delTCT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.117+14_117+16delTCT
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.117+14_117+16delTCT
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19786
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: CAGA
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

7-48018272-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018272
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018272
    reference: chr 7
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.117+14T>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.117+14T>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.214+14T>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.117+14T>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.117+14T>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.180+14T>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.180+14T>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.117+14T>A
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14948
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7883
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

7-48018274-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018274
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018274
    reference: chr 7
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.214+12C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.117+12C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.117+12C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.180+12C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.117+12C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.117+12C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.180+12C>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.117+12C>T
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6974
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10562
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/7-48018275-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018275
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018275
    reference: chr 7
allele count: 2
allele frequency: 1.653302471687195e-5
allele num: 120970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.117+11G>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.117+11G>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.117+11G>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.180+11G>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.117+11G>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.214+11G>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.117+11G>T
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.180+11G>T
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14978
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3548
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

7-48018278-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018278
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018278
    reference: chr 7
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.117+8A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.180+8A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.117+8A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.117+8A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.180+8A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.117+8A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.214+8A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.117+8A>G
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15019
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6982
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10567
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
hgvs: c.180+8A>G
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

7-48018285-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018285
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018285
    reference: chr 7
allele count: 1
allele frequency: 8.261868173631421e-6
allele num: 121038
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.180+1G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.214+1G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.117+1G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.180+1G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.117+1G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.117+1G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.117+1G>A
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.117+1G>A
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 3.25e1
  variant carriers: 0
hgvs: c.180+1G>A
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

7-48018320-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018320
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018320
    reference: chr 7
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.83A>G
  hgvsp: ENSP00000405175.1:p.Asn28Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.83A>G
  hgvsp: ENSP00000398806.1:p.Asn28Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.146A>G
  hgvsp: ENSP00000403844.1:p.Asn49Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.146A>G
  hgvsp: ENSP00000258774.5:p.Asn49Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.180A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.83A>G
  hgvsp: ENSP00000400727.1:p.Asn28Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.83A>G
  hgvsp: ENSP00000404855.1:p.Asn28Ser
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.83A>G
  hgvsp: ENSP00000416588.1:p.Asn28Ser
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16106
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8499
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10726
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4849
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn49Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

7-48018320-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018320
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018320
    reference: chr 7
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.83A>C
  hgvsp: ENSP00000398806.1:p.Asn28Thr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.180A>C
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.146A>C
  hgvsp: ENSP00000258774.5:p.Asn49Thr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.83A>C
  hgvsp: ENSP00000405175.1:p.Asn28Thr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.83A>C
  hgvsp: ENSP00000404855.1:p.Asn28Thr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.146A>C
  hgvsp: ENSP00000403844.1:p.Asn49Thr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.83A>C
  hgvsp: ENSP00000400727.1:p.Asn28Thr
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.83A>C
  hgvsp: ENSP00000416588.1:p.Asn28Thr
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12276
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10726
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8499
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn49Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

7-48018322-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018322
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018321
    reference: chr 7
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.80delC
  hgvsp: ENSP00000416588.1:p.Ala27ValfsTer5
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.80delC
  hgvsp: ENSP00000404855.1:p.Ala27ValfsTer5
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.80delC
  hgvsp: ENSP00000398806.1:p.Ala27ValfsTer5
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.80delC
  hgvsp: ENSP00000400727.1:p.Ala27ValfsTer5
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.143delC
  hgvsp: ENSP00000403844.1:p.Ala48ValfsTer5
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.80delC
  hgvsp: ENSP00000405175.1:p.Ala27ValfsTer5
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.177delC
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.143delC
  hgvsp: ENSP00000258774.5:p.Ala48ValfsTer5
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8521
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala48ValfsTer5
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: AG
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-48018329-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018329
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018329
    reference: chr 7
allele count: 7
allele frequency: 5.774053055298931e-5
allele num: 121232
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000258774
  ensembl transcript: ENST00000258774
  gene symbol: HUS1
  hgvsc: ENST00000258774.5:c.137A>G
  hgvsp: ENSP00000258774.5:p.Lys46Arg
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000398806
  ensembl transcript: ENST00000446009
  gene symbol: HUS1
  hgvsc: ENST00000446009.1:c.74A>G
  hgvsp: ENSP00000398806.1:p.Lys25Arg
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000416588
  ensembl transcript: ENST00000432325
  gene symbol: HUS1
  hgvsc: ENST00000432325.1:c.74A>G
  hgvsp: ENSP00000416588.1:p.Lys25Arg
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000400727
  ensembl transcript: ENST00000458191
  gene symbol: HUS1
  hgvsc: ENST00000458191.1:c.74A>G
  hgvsp: ENSP00000400727.1:p.Lys25Arg
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000404855
  ensembl transcript: ENST00000432627
  gene symbol: HUS1
  hgvsc: ENST00000432627.1:c.74A>G
  hgvsp: ENSP00000404855.1:p.Lys25Arg
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000403844
  ensembl transcript: ENST00000436444
  gene symbol: HUS1
  hgvsc: ENST00000436444.1:c.137A>G
  hgvsp: ENSP00000403844.1:p.Lys46Arg
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136273
  ensembl transcript: ENST00000468868
  gene symbol: HUS1
  hgvsc: ENST00000468868.1:n.171A>G
  variant of: http://identifiers.org/hgnc/5309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136273
  ensembl protein: ENSP00000405175
  ensembl transcript: ENST00000433977
  gene symbol: HUS1
  hgvsc: ENST00000433977.1:c.74A>G
  hgvsp: ENSP00000405175.1:p.Lys25Arg
  variant of: http://identifiers.org/hgnc/5309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7263
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys46Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP

7-48018335-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018335
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48018335
    reference: chr 7
allele count: 26
allele frequency: 2.144471387802907e-4
allele num: 121242
alternate allele: T
canonical: true
consequence: missense
filter: PASS
hgvs: p.Cys44Tyr
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 3920
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 11945
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4817
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19813
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9347
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 147
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2639
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2215
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.090875867949811e-5
allele num: 16418
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.4e-2

QD
type: SiteQuality
SIO_000300: 1.555e1

DP
type: SiteQuality
SIO_000300: 2.137059e6

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.535e0

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

GenotypeQuality
all individuals: 79
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2216
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11945
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9336
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19916
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3921
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4825
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001290554938624e-5
allele num: 66638
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.13865e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.628e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

FS
type: SiteQuality
SIO_000300: 1.129e0

QD
type: SiteQuality
SIO_000300: 1.198e1

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 108
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3922
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5266
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11943
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19997
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2639
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4832
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.46e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

QD
type: SiteQuality
SIO_000300: 1.392e1

FS
type: SiteQuality
SIO_000300: 3.099e0

DP
type: SiteQuality
SIO_000300: 2.13926e6

MQRankSum
type: SiteQuality
SIO_000300: 9.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.715e0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2213
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2636
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4832
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11940
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5264
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3920
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9365
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20015
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.12e-1

DP
type: SiteQuality
SIO_000300: 2.13964e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.119e0

FS
type: SiteQuality
SIO_000300: 8.120000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.013e1

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.14e-1

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 59
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 96
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2213
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3922
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5266
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2636
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11938
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.13962e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.28e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.43e-1

FS
type: SiteQuality
SIO_000300: 5.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

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

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20116
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9397
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 80
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4831
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11928
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5264
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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: 6614
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

DP
type: SiteQuality
SIO_000300: 2.140193e6

QD
type: SiteQuality
SIO_000300: 1.324e1

FS
type: SiteQuality
SIO_000300: 3.619e0

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

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

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

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

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

South Asian
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allele count: 2
allele frequency: 1.213886865744113e-4
allele num: 16476
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

FS
type: SiteQuality
SIO_000300: 2.027e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
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SIO_000300: 4.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.85e-1

ClippingRankSum
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SIO_000300: 4.32e-1

QD
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SIO_000300: 1.177e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 2.140643e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

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

Latino
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allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

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

QD
type: SiteQuality
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DP
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 5.2e-1

InbreedingCoeff
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SIO_000300: 6.8e-3

BaseQRankSum
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SIO_000300: -8.149999999999999e-1

MQ
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SIO_000300: 5.931e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.931e1

BaseQRankSum
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SIO_000300: -8.149999999999999e-1

InbreedingCoeff
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
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QD
type: SiteQuality
SIO_000300: 1.185e1

MQRankSum
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DP
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SIO_000300: 2.141063e6

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

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.774e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

DP
type: SiteQuality
SIO_000300: 2.140866e6

BaseQRankSum
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SIO_000300: 1.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.508e0

QD
type: SiteQuality
SIO_000300: 1.201e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 2.141534e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
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SIO_000300: 1.025e1

ReadPosRankSum
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SIO_000300: 2.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-1

FS
type: SiteQuality
SIO_000300: 1.594e0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

Other
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
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MQ
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SIO_000300: 5.966e1

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: 3

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498560460652591e-5
allele num: 66688
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.1786e1

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

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

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

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

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

African
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allele frequency: 0.0e0
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Other
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East Asian
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South Asian
type: Population
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allele num: 16506
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MQRankSum
type: SiteQuality
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DP
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MQ
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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FS
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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East Asian
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European (Finnish)
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VQSLOD
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ClippingRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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FS
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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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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.997601918465228e-5
allele num: 66720
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VQSLOD
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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African
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South Asian
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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ClippingRankSum
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QD
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MQRankSum
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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allele num: 66732
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 20600
bin: 6.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.498756032493031e-4
allele num: 66722
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

FS
type: SiteQuality
SIO_000300: 4.024e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

DP
type: SiteQuality
SIO_000300: 2.13522e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.51e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -8.51e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

DP
type: SiteQuality
SIO_000300: 2.13522e6

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

FS
type: SiteQuality
SIO_000300: 4.024e0

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: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -6.373e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.196e0

MQRankSum
type: SiteQuality
SIO_000300: -1.146e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.735e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.133003e6

QD
type: SiteQuality
SIO_000300: 9.01e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.423654871546292e-4
allele num: 16504
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

FS
type: SiteQuality
SIO_000300: 8.667999999999999e0

DP
type: SiteQuality
SIO_000300: 2.132738e6

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.91e-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: 9.75e1
variant carriers: 4

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

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.132526e6

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.377e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49707690001499e-5
allele num: 66710
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.46e-1

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.398e0

DP
type: SiteQuality
SIO_000300: 2.131364e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 3.41e-1

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 6.41e-1

QD
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SIO_000300: 8.56e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.424242424242424e-4
allele num: 16500
num of homozygotes: 0

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

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

InbreedingCoeff
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MQ
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QD
type: SiteQuality
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MQRankSum
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.393e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.224e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.78e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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)
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allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.06060606060606e-5
allele num: 16500
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.9e-1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 136
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20655
bin: 6.25e1
variant carriers: 0

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

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

East Asian
type: Population
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allele frequency: 0.0e0
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South Asian
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African
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Other
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European (Non-Finnish)
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allele frequency: 1.499250374812594e-5
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InbreedingCoeff
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DP
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FS
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VQSLOD
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ClippingRankSum
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11574
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East Asian
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allele frequency: 0.0e0
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Other
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African
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allele frequency: 9.63948332369385e-5
allele num: 10374
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South Asian
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European (Non-Finnish)
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66696
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Latino
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East Asian
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allele num: 8646
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QD
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VQSLOD
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ReadPosRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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SIO_000300: 2.128361e6

ClippingRankSum
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SIO_000300: 4.34e-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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African
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allele frequency: 1.929384526336099e-4
allele num: 10366
num of homozygotes: 0

Latino
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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East Asian
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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FS
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8648
num of homozygotes: 0

African
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allele count: 9
allele frequency: 8.685581933989577e-4
allele num: 10362
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66680
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South Asian
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Other
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Latino
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QD
type: SiteQuality
SIO_000300: 1.383e1

DP
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SIO_000300: 2.126908e6

FS
type: SiteQuality
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ClippingRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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allele num: 66660
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African
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Latino
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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VQSLOD
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BaseQRankSum
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FS
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DP
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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East Asian
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Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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QD
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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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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East Asian
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European (Finnish)
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Other
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South Asian
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African
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European (Non-Finnish)
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Latino
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ReadPosRankSum
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QD
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ClippingRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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VQSLOD
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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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European (Non-Finnish)
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African
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Other
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Latino
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South Asian
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European (Finnish)
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East Asian
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ReadPosRankSum
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BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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FS
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MQRankSum
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ClippingRankSum
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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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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 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: 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: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.932e0

VQSLOD
type: SiteQuality
SIO_000300: -1.087e0

MQ
type: SiteQuality
SIO_000300: 5.465e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.118315e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.175e0

QD
type: SiteQuality
SIO_000300: 1.91e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

FS
type: SiteQuality
SIO_000300: 8.66e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.431e0

VQSLOD
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SIO_000300: 4.44e-1

QD
type: SiteQuality
SIO_000300: 1.255e1

DP
type: SiteQuality
SIO_000300: 2.116004e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
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: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQ
type: SiteQuality
SIO_000300: 6.128e1

FS
type: SiteQuality
SIO_000300: 1.3936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 1.165e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.82e-1

DP
type: SiteQuality
SIO_000300: 2.113723e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.755e-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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.888888888888889e-5
allele num: 11250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65088
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.39e-1

DP
type: SiteQuality
SIO_000300: 2.118446e6

FS
type: SiteQuality
SIO_000300: 8.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 3228
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16126
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.888888888888889e-5
allele num: 11250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65088
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-2

DP
type: SiteQuality
SIO_000300: 2.118446e6

FS
type: SiteQuality
SIO_000300: 8.52e-1

QD
type: SiteQuality
SIO_000300: 3.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.76e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 4

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: 14

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.555555555555556e-4
allele num: 11250
num of homozygotes: 0

South Asian
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allele count: 7
allele frequency: 4.340816073421804e-4
allele num: 16126
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.156488549618321e-4
allele num: 8384
num of homozygotes: 0

African
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allele count: 4
allele frequency: 3.938558487593541e-4
allele num: 10156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.084515731030228e-4
allele num: 6484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.919124877089479e-4
allele num: 65088
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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FS
type: SiteQuality
SIO_000300: 8.52e-1

InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 2.118446e6

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 3.9e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65340
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.819324430479184e-5
allele num: 10184
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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VQSLOD
type: SiteQuality
SIO_000300: 1.6e-2

DP
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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bin: 5.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
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num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 0.0e0
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Latino
type: Population
allele count: 2
allele frequency: 1.730702665282105e-4
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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QD
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502403846153846e-5
allele num: 66560
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 2.971e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.038603e6

MQRankSum
type: SiteQuality
SIO_000300: -9.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.43e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

GenotypeQuality
all individuals: 4496
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1977
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4328
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3421
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20415
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10527
bin: 9.75e1
variant carriers: 7

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.052156921689463e-4
allele num: 66530
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-1

FS
type: SiteQuality
SIO_000300: 8.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.001e0

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

DP
type: SiteQuality
SIO_000300: 2.031649e6

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3421
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10523
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1978
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4321
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20305
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4498
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8249
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2248
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.89e-1

FS
type: SiteQuality
SIO_000300: 1.516e0

DP
type: SiteQuality
SIO_000300: 2.029651e6

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.702e1

GenotypeQuality
all individuals: 570
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2248
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10524
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3412
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8211
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4312
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
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: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502945773716484e-5
allele num: 66536
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.476e0

QD
type: SiteQuality
SIO_000300: 1.679e1

MQ
type: SiteQuality
SIO_000300: 5.896e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.026006e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.865e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 948
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4450
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8081
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4253
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19608
bin: 6.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

QD
type: SiteQuality
SIO_000300: 1.044e1

FS
type: SiteQuality
SIO_000300: 3.196e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 2.013691e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.28e-1

GenotypeQuality
all individuals: 1068
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2241
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19135
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7969
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1981
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3391
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4410
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

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

African
type: Population
allele count: 64
allele frequency: 6.158583525789068e-3
allele num: 10392
num of homozygotes: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 2.007161e6

QD
type: SiteQuality
SIO_000300: 1.571e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.55e0

FS
type: SiteQuality
SIO_000300: 5.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

GenotypeQuality
all individuals: 988
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7916
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10519
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1986
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3387
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.0790273556231e-5
allele num: 16450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
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: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.377e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.181e0

FS
type: SiteQuality
SIO_000300: 9.436e0

DP
type: SiteQuality
SIO_000300: 2.002647e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.305e0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4356
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2243
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7609
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18500
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505026789476853e-5
allele num: 66444
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 2.001712e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

QD
type: SiteQuality
SIO_000300: 1.468e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

GenotypeQuality
all individuals: 340
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1000
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19487
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2247
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10533
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4404
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 8.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008514094888535e-5
allele num: 66478
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.634e0

QD
type: SiteQuality
SIO_000300: 1.593e1

MQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-2

FS
type: SiteQuality
SIO_000300: 7.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.002946e6

GenotypeQuality
all individuals: 593
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4426
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7747
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18996
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3434
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2252
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10537
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1994
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66474
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.825039542523421e-4
allele num: 16438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

DP
type: SiteQuality
SIO_000300: 2.002231e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

FS
type: SiteQuality
SIO_000300: 1.856e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.51e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.27e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 7

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.086427267194157e-5
allele num: 16430
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.201109570041609e-4
allele num: 11536
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.481e0

DP
type: SiteQuality
SIO_000300: 2.003082e6

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.531e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.5e-2

QD
type: SiteQuality
SIO_000300: 1.393e1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
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: 1.505978735580254e-5
allele num: 66402
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: 10378
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.374e0

VQSLOD
type: SiteQuality
SIO_000300: -2.59e0

FS
type: SiteQuality
SIO_000300: 2.932e0

MQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.86e-1

MQ
type: SiteQuality
SIO_000300: 5.851e1

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.405e0

DP
type: SiteQuality
SIO_000300: 2.003474e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
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: 6604
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.467406380027739e-4
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

QD
type: SiteQuality
SIO_000300: 1.34e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.038e0

FS
type: SiteQuality
SIO_000300: 1.649e0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

DP
type: SiteQuality
SIO_000300: 2.004254e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.890173410404624e-4
allele num: 10380
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 4.015e0

MQ
type: SiteQuality
SIO_000300: 5.625e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.107e0

QD
type: SiteQuality
SIO_000300: 1.802e1

DP
type: SiteQuality
SIO_000300: 2.008498e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.102e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.010045e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-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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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503985561738607e-5
allele num: 66490
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.49e-1

QD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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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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: 2
allele frequency: 3.008604609182261e-5
allele num: 66476
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.600000000000001e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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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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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
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Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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QD
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DP
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503578516870151e-5
allele num: 66508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.074e0

VQSLOD
type: SiteQuality
SIO_000300: -2.122e0

FS
type: SiteQuality
SIO_000300: 1.562e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.837e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 2.022465e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.727e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.25e0

GenotypeQuality
all individuals: 147
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5253
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2468
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
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: 6606
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.24e0

QD
type: SiteQuality
SIO_000300: 1.618e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.062e0

MQRankSum
type: SiteQuality
SIO_000300: 7.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.7e-3

DP
type: SiteQuality
SIO_000300: 2.05652e6

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: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2468
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.7e-3

DP
type: SiteQuality
SIO_000300: 2.05652e6

FS
type: SiteQuality
SIO_000300: 1.062e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

QD
type: SiteQuality
SIO_000300: 1.618e1

MQRankSum
type: SiteQuality
SIO_000300: 7.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 126
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4061
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21646
bin: 6.25e1
variant carriers: 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: 8650
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: 11552
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.278e0

DP
type: SiteQuality
SIO_000300: 2.057829e6

MQ
type: SiteQuality
SIO_000300: 6.045e1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 1.693e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

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

GenotypeQuality
all individuals: 4884
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 10764
bin: 9.75e1
variant carriers: 7

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 6
allele frequency: 3.636804461146806e-4
allele num: 16498
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.305e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

FS
type: SiteQuality
SIO_000300: 3.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.062728e6